Disorders of Steroid 11β-Hydroxylase Isozymes*
WHITE, PERRIN C., CURNOW, KATHLEEN M., PASCOE, LEIGH·1994·Endocrine Reviews
Cited by (272)
Items 101–200 of 272
- Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysisGrischuk, Yulia, Rubtsov, Petr, Riepe, Felix G., Grötzinger, Joachim, Beljelarskaia, Svetlana, Prassolov, Vladimir, Kalintchenko, Natalya, Semitcheva, Tatyana, Peterkova, Valentina, Tiulpakov, Anatoly et al. · 2006 · The Journal of Clinical Endocrinology & Metabolism
- Suppression of the HPA axis during extrahepatic biliary obstruction induces cholangiocyte proliferation in the ratMatthew A. Quinn, Yoshiyuki Ueno, Hae Yong Pae, Li Huang, Gabriel A. Frampton, Cheryl Galindo, Heather Francis, Darijana Horvat, Matthew McMillin, Sharon DeMorrow · 2011 · American Journal of Physiology-Gastrointestinal and Liver Physiology
- Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 geneFirdevs Baş, Güven Toksoy, Berrin Ergun-Longmire, Zehra Oya Uyguner, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Volkan Karaman, Şahin Avcı, Umut Altunoğlu, Rüveyde Bundak et al. · 2018 · The Journal of Steroid Biochemistry and Molecular Biology
- Characterization of the molecular genetic pathology in patients with 11β‐hydroxylase deficiencyChristiaan F. Mooij, Silvia Parajes, Ian T. Rose, ANGELA E. R. TAYLOR, Taner Bayraktaroğlu, John A. H. Wass, John Connell, David William Ray, Wiebke Arlt, Nils Peter Krone · 2015 · Clinical Endocrinology
- Can the dextroenantiomer of the aromatase inhibitor fadrozole be useful for clinical investigation of aldosterone-synthase inhibition?Joël Ménard, Leigh Pascoe · 2006 · Journal of Hypertension
- Homozygous Deletion of Arginine-173 in the CYP11B2 Gene in a Girl with Congenital HypoaldosteronismMichael Peter, Werner Nikischin, Peter Heinz‐Erian, W. Fussenegger, Klaus Kapelari, Wolfgang G. Sippell · 1998 · Hormone Research in Paediatrics
- Therapeutic relevance of pharmacogenetic factors in cardiovascular medicineKazuko Nakagawa · 2000 · Pharmacology & Therapeutics
- Three Novel <i>CYP11B1</i> Mutations in Congenital Adrenal Hyperplasia due to Steroid 11Beta-Hydroxylase Deficiency in a Moroccan PopulationChabraoui, L., Abid, F., Menassa, R., Gaouzi, A., El Hessni, A., Morel, Y. · 2010 · Hormone Research in Paediatrics
- Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379VKharrat, M, Trabelsi, S, Chaabouni, M, Maazoul, F, Kraoua, L, Ben Jemaa, L, Gandoura, N, Barsaoui, S, Morel, Y, M’rad, R et al. · 2010 · Clinical Genetics
- The human adrenal cortex: growth control and disordersClaudimara Ferini Pacicco Lotfi, Jean Lucas Kremer, Bárbara dos Santos Passaia, Isadora Pontes Cavalcante · 2018 · Clinics
- Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiencySeher Polat, Alexandra E. Kulle, Züleyha Karaca, Ilker Akkurt, Kurtoglu Selim, Fahrettin Keleştimur, Joachim Grötzinger, Paul‐Martin Holterhus, Felix G. Riepe · 2014 · European Journal of Endocrinology
- Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiencyNurgün Kandemir, Didem Yücel Yılmaz, Elmas Nazli Gonc, Alev Özön, Ayfer Alikaşifoğlu, Ali Dursun, Rıza Köksal Özgül · 2016 · The Journal of Steroid Biochemistry and Molecular Biology
- Correlation between left ventricular mass and urinary sodium excretion in specific genotypes of CYP11B2Mako Isaji, Tomoatsu Mune, Nobuki Takada, Yoritsuna Yamamoto, Tetsuya Suwa, Hiroyuki Morita, Jun Takeda, Perrin C. White · 2005 · Journal of Hypertension
- CYP11B2 polymorphisms and cardiovascular risk factorsEleanor Davies, Christopher J. Kenyon · 2003 · Journal of Hypertension
- Genetic disorders of steroid hormone synthesis and metabolismMaria I. New, Perrin C. White · 1995 · Baillière s Clinical Endocrinology and Metabolism
- Genetics of vitamin D biosynthesis and its disordersMiller, Walter L., Portale, Anthony A. · 2001 · Best Practice & Research Clinical Endocrinology & Metabolism
- Metformin versus chromium picolinate in clomiphene citrate-resistant patients with PCOs: A double-blind randomized clinical trial.Sedigheh Amooee, Mohammad Ebrahim Parsanezhad, Maryam Ravanbod Shirazi, Saeed Alborzi, Alamtaj Samsami · 2013 · Europe PMC (PubMed Central)
- Physiological and pathophysiological applications of sensitive ELISA methods for urinary deoxycorticosterone and corticosterone in rodentsEmad A. S. Al‐Dujaili, Linda Jane Mullins, Matthew A. Bailey, Ruth Andrew, Christopher J. Kenyon · 2009 · Steroids
- GENETIC DISORDERS OF VITAMIN D BIOSYNTHESISWalter L. Miller, Anthony A. Portale · 1999 · Endocrinology and Metabolism Clinics of North America
- Local renin-angiotensin systems and their interactions with extra-adrenal corticosteroid productionScott Mackay MacKenzie, Robert Fraser, John Connell, Eleanor Davies · 2002 · Journal of the Renin-Angiotensin-Aldosterone System
- Congenital adrenal hyperplasiasPerrin C. White · 2001 · Best Practice & Research Clinical Endocrinology & Metabolism
- Congenital Adrenal Hyperplasia: Molecular Genetics and Alternative Approaches to TreatmentConstantine A. Stratakis, Owen M. Rennert · 1999 · Critical Reviews in Clinical Laboratory Sciences
- Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature reviewHui Miao, Zhongxun Yu, Lin Lü, Huijuan Zhu, Richard Joseph Auchus, Jiayan Liu, Jun Jiang, Hui Pan, Fengying Gong, Shi Chen et al. · 2019 · Steroids
- Interaction of CYP11B1 (cytochrome P‐45011β) with CYP11A1 (cytochrome P‐450scc) in COS‐1 cellsPeirang Cao, Rita Bernhardt · 1999 · European Journal of Biochemistry
- Mutations in CYP11B1 Gene Converting 11 -Hydroxylase into an Aldosterone-Producing Enzyme Are Not Present in Aldosterone-Producing AdenomasCatia Pilon, Paolo Mulatero, Luisa Barzon, Franco Veglio, Corrado Garrone, Marco Boscaro, Nicoletta Sonino, Francesco Fallo · 1999 · The Journal of Clinical Endocrinology & Metabolism
- Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type IIMichael Peter, K Bünger, J. Sólyom, Wolfgang G. Sippell · 1998 · European Journal of Pediatrics
- The effect of amino‐acid substitutions I112P, D147E and K152N in CYP11B2 on the catalytic activities of the enzymeStephanie Bechtel, Natalya Belkina, Rita Bernhardt · 2002 · European Journal of Biochemistry
- Inherited Disorders of the Renal TubuleAlain Bonnardeaux, Daniel Georges Bichet · 2012 · Elsevier eBooks
- Evaluation of Hypertension in Childhood DiseasesEileen D. Brewer, Sarah J. Swartz · 2015 · Springer eBooks
- A Case of 11β-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MSMichael Peter, Nils Janzen, Stefanie Sander, Eckhard Korsch, Felix G. Riepe, Johannes Sander · 2008 · Hormone Research in Paediatrics
- Congenital Adrenal Hyperplasia due to 11-Hydroxylase Deficiency – Insights from Two Novel <i>CYP11B1</i> Mutations (p.M92X, p.R453Q)Krone, Nils, Grötzinger, Joachim, Holterhus, Paul-Martin, Sippell, Wolfgang G., Schwarz, Hans-Peter, Riepe, Felix G. · 2009 · Hormone Research in Paediatrics
- Osteoprotegerin and osteoprotegerin ligand effects on osteoclast formation from human peripheral blood mononuclear cell precursorsVictoria Shalhoub, Judy Faust, William J. Boyle, Colin Robert Dunstan, M. Kelley, Steve Kaufman, Sheila A. Scully, Gwyneth Y. Van, David L. Lacey · 1999 · Journal of Cellular Biochemistry
- Transcription factors as regulators of steroidogenic P‐450 enzymesMichael Peter, J.-M. Dubuis · 2000 · European Journal of Clinical Investigation
- Metabolic syndrome and cardiovascular morbidity in patients with congenital adrenal hyperplasiaMattia Barbot, Pierluigi Mazzeo, Martina Lazzara, Filippo Ceccato, Carla Maria Scaroni · 2022 · Frontiers in Endocrinology
- Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene.Bahareh Rabbani, Nejat Mahdieh, Mohammad Taghi Haghi-Ashtiani, Mohammad-Taghi Akbari, Ali Rabbani · 2011 · PubMed Central
- Aldosterone synthase deficiency caused by a homozygous L451F mutation in the CYP11B2 geneHuy-Hoang Nguyen, Frank Hannemann, Michaela F. Hartmann, Stefan Alexander Wudy, Rita Bernhardt · 2008 · Molecular Genetics and Metabolism
- Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 geneNguyen, Huy-Hoang, Eiden-Plach, Antje, Hannemann, Frank, Malunowicz, Ewa M., Hartmann, Michaela F., Wudy, Stefan A., Bernhardt, Rita · 2016 · The Journal of Steroid Biochemistry and Molecular Biology
- Two Novel Mutations in Splice Donor Sites ofCYP11B1in Congenital Adrenal Hyperplasia Due to 11β-Hydroxylase DeficiencyOlivier Chabre, Stéphanie Portrat-Doyen, Josiane Vivier, Yves Morel, Geneviève Defaye · 2000 · Endocrine Research
- Steroid Hormones: Chemistry, Biosynthesis, and MetabolismAnthony W. Norman, Gerald Litwack · 1997 · Elsevier eBooks
- Disorders of mineralocorticoid synthesisJohn Connell, Robert Fraser, Eleanor Davies · 2001 · Best Practice & Research Clinical Endocrinology & Metabolism
- Morphological and Morphometric Analysis of the Adrenal Cortex of Androgenized Female RatsBenedito Borges da Silva, Pedro Vitor Lopes-Costa, Marta Alves Rosal, Cleicilene Gomes Pires, Lina Gomes dos Santos, José Antônio Rocha Gontijo, Airlane Pereira Alencar, Manuel de Jesus Simões · 2007 · Gynecologic and Obstetric Investigation
- Update on the Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia due to 11β-Hydroxylase DeficiencyRoja Motaghedi, Brian P. Betensky, Bozena Slowinska, Barbara I. Cerame, M. Cabrera, Maria I. New, Robert C. Wilson · 2005 · Journal of Pediatric Endocrinology and Metabolism
- Functional effects of genetic variants in the 11β‐hydroxylase (CYP11B1) geneMarianne Barr, Scott Mackay MacKenzie, Donna M. Wilkinson, Christine D. Holloway, Elaine C. Friel, Stephen Miller, Thomas MacLennan MacDonald, Robert Fraser, John Connell, Eleanor Davies · 2006 · Clinical Endocrinology
- Defects of Adrenal SteroidogenesisMabel Yau, Ahmed Khattab, Christian Pina, Tony Yuen, Heino F. L. Meyer‐Bahlburg, Maria I. New · 2015 · Elsevier eBooks
- Stimulatory Effect of Intermittent Hypoxia on the Production of Corticosterone by Zona Fasciculata-Reticularis Cells in RatsGuey-Shyang Hwang, Chih-Chieh Chen, Jou‐Chun Chou, Lingling Chang, Shu‐Fen Kan, Wei‐Ho Lai, Fu-Kong Lieu, Sindy Hu, Paulus S. Wang, Shyi‐Wu Wang · 2017 · Scientific Reports
- Amino Acid Residue 147 of Human Aldosterone Synthase and 11 -Hydroxylase Plays a Key Role in 11 -HydroxylationAngela Fisher, Robert Fraser, John Connell, Eleanor Davies · 2000 · The Journal of Clinical Endocrinology & Metabolism
- Hook Effect: A Pitfall Leading to Misdiagnosis of Hypoaldosteronism in an Infant with PseudohypoaldosteronismLeyla Akın, Selim Kurtoğlu, Mustafa Kendırcı, Mustafa Ali Akın, Michaela F. Hartmann, Stefan Alexander Wudy · 2010 · Hormone Research in Paediatrics
- Expression of 11?-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) in the human fetal adrenalWilliam A. Freije, Vincenzo Pezzi, A ARICE, Brian Irving Carr, William E. Rainey · 1997 · Journal of the Society for Gynecologic Investigation
- Identification of the fungicide epoxiconazole by virtual screening and biological assessment as inhibitor of human 11β-hydroxylase and aldosterone synthaseMuhammad Akram, Melanie Patt, Teresa Kaserer, Veronika Temml, Watcharee Waratchareeyakul, Denise V. Kratschmar, Jörg Haupenthal, Rolf W. Hartmann, Alex Odermatt, Daniela Schuster · 2019 · The Journal of Steroid Biochemistry and Molecular Biology
- Genetics of the Adrenal GlandConstantine A. Stratakis, Ioannis Bossis · 2004 · Reviews in Endocrine and Metabolic Disorders
- Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiencyTippayakarn Klomchan, Vichit Supornsilchai, Suttipong Wacharasindhu, Vorasuk Shotelersuk, Taninee Sahakitrungruang · 2012 · European Journal of Pediatrics
- Mechanisms of Negative and Positive Feedback of Steroids in the Hypothalamic–Pituitary SystemGeorge Fink · 1997 · Principles of medical biology
- Congenital Hypoaldosteronism: The Visser-Cost Syndrome RevisitedMichael Peter, Wolfgang G. Sippell · 1996 · Pediatric Research
- Evaluation of Endocrine FunctionH. Guber, A. Farag · 2011 · Elsevier eBooks
- The molecular basis and genotype–phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian populationAyca Dundar, Ruslan Bayramov, Müge Gülcihan Önal, Mustafa Akkus, Muhammet Ensar Doğan, Sercan Kenanoğlu, Meltem Cerrah Güneş, Ulviye Kazimli, Mehmet Nuri Özbek, Oya Ercan et al. · 2019 · Molecular Biology Reports
- Effects of atipamezole, detomidine and medetomidine on release of steroid hormones by porcine adrenocortical cells in vitroLowie P. Jager, G. J. de Graaf, H. C. Aura Widjaja-Greefkes · 1998 · European Journal of Pharmacology
- Congenital Adrenal Hyperplasia: From Genetics and Biochemistry to Clinical Practice, Part 1Paulo Ferrez Collett‐Solberg · 2001 · Clinical Pediatrics
- Ovarian and Adrenal Androgen Biosynthesis and MetabolismWalter L. Miller, David H. Geller, Mitchell P. Rosen · 2007 · Humana Press eBooks
- Acne infantum as presenting symptom of congenital adrenal hyperplasia due to 11‐beta‐hydroxylase deficiencyViola Harde, Marina Müller, Wolfgang G. Sippell, Thomas Schwarz, Regina Fölster‐Holst · 2006 · JDDG Journal der Deutschen Dermatologischen Gesellschaft
- Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patientChaoming Wu, Qi Zhou, Lian Wan, Li Ni, Chao Zheng, Yanying Qian, Jian Jin · 2010 · Fertility and Sterility
- Evolution of mineralocorticoid receptor antagonists, aldosterone synthase inhibitors, and alternative treatments for managing primary aldosteronismYuichi Yoshida, Hirotaka Shibata · 2024 · Hypertension Research
- Disorders of the adrenal cortex: Genetic and molecular aspectsGeorgia Pitsava, Andréa Gutierrez Maria, Fabio Rueda Faucz · 2022 · Frontiers in Endocrinology
- Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an InfantAla Üstyol, Mehmet Emre Atabek, Norman Taylor, Matthew Chun-wing Yeung, Angel On-Kei Chan · 2016 · Journal of Clinical Research in Pediatric Endocrinology
- Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates and infants and its application in aldosterone-synthase deficiencyFelix G. Riepe, Nils Peter Krone, Michael Peter, Wolfgang G. Sippell, Carl‐Joachim Partsch · 2003 · Journal of Chromatography B
- The prolactin regulatory element-binding regulates of the 11β-hydroxylase geneHitomi Imachi, Koji Murao, Wen Ming Cao, Tomie Muraoka, Takamasa Nishiuchi, Hiroaki Dobashi, Naohisa Hosomi, Hisakazu Iwama, Toshihiko Ishida · 2008 · Biochemical and Biophysical Research Communications
- Primary Aldosteronism and its Impact on the Generation of Arterial Hypertension, Endothelial Injury and Oxidative StressAlejandro Martínez‐Aguayo, Cristián A. Carvajal, Carmen Campino, Marlene Aglony I, Lillian Bolte, Hernán García, Carlos Fardella · 2010 · Journal of Pediatric Endocrinology and Metabolism
- A Novel Mutation in theCYP11B1Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible CardiomyopathyMohammad A. Alqahtani, Ayed Abdullah Shati, Minjing Zou, Ali Alsuheel Asseri, Abdullah A. Al-Hayani, Saleh M. Al‐Qahtani, Hessa M. Gilban, Brain F. Meyer, Yufei Shi · 2015 · International Journal of Endocrinology
- A Particular Phenotype in a Girl with Aldosterone Synthase DeficiencyTracy Ann Williams, Paolo Mulatero, Maurizio Bosio, Sabina Lewicka, Mario Palermo, Franco Veglio, Decio Armanini · 2004 · The Journal of Clinical Endocrinology & Metabolism
- CYP11β1 (11‐beta‐hydroxylase) deficiency in congenital adrenal hyperplasiaChristine Pamela Burren, Joseph Montalto, A. B. W. YONG, Jennifer Batch · 1996 · Journal of Paediatrics and Child Health
- High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probandsYunpeng Wang, Gaohui Zhu, Dan‐Hua Li, Yu Pan, Rong Li, Ting Zhou, Aiping Mao, Libao Chen, Jing Zhu, Min Zhu · 2025 · Human Genomics
- A high rate of novel CYP11B1 mutations in Saudi ArabiaAli Saeed Alzahrani, Meshael M. Alswailem, Avaniyapuram Kannan Murugan, Doha S. Alhomaidah, Cameron P. Capper, Richard Joseph Auchus, Ebtesam Qasem, Ohoud Alzahrani, Afaf Alsagheir, Bassam Saleh Bin-Abbas · 2017 · The Journal of Steroid Biochemistry and Molecular Biology
- Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patientSoara Menabò, S Boccassini, Alessandra Gambineri, Antonio Balsamo, Riccardo Pasquali, Olga Prontera, Laura Mazzanti, Lilia Baldazzi · 2015 · Journal of Endocrinological Investigation
- Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase DeficiencyBüşra Gürpınar Tosun, Yasemin Kendir Demirkol, tuba seven menevse, Sare Betül Kaygusuz, Mehmet Nuri Özbek, Ayça Altıncık, Jamala Mammadova, Atilla Çayır, Esra Döğer, Elvan Bayramoğlu et al. · 2021 · The Journal of Clinical Endocrinology & Metabolism
- A Novel Nonsense Mutation in the CYP11B1 Gene from a Subject with the Steroid 11β‐Hydroxylase Form of Congenital Adrenal HyperplasiaIsao Kuribayashi, Guy Massa, H. K. van den Tooren‐de Groot, Wilma Oostdijk, Jan Maarten Wit, Yutaka Shizuta · 2003 · Endocrine Research
- Bases Moleculares da Hiperplasia Adrenal CongênitaMello, Maricilda Pallandi de, Bachega, Tânia A.S.S., Costa-Santos, Marivânia da, Mermejo, Lívia Mara, Castro, Margaret de · 2002 · Arquivos Brasileiros de Endocrinologia & Metabologia
- Evidence for Endocrinological Abnormalities in Heterozygotes for Adrenal 11β-Hydroxylase Deficiency of a Family with the R448H Mutation in the CYP11B1 Gene1Michael Peter, Wolfgang G. Sippell · 1997 · The Journal of Clinical Endocrinology & Metabolism
- Familial pericentric inversion chromosome 3 and R448C mutation of CYP11B1 gene in Turkish kindred with 11β-hydroxylase deficiencySultan Cingöz, Behzat Özkan, Hakan Döneray, Meral Sakızlı · 2007 · Journal of Endocrinological Investigation
- A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case reportXianxian Yuan, Lin Lü, Shi Chen, Jun Jiang, Xiangqing Wang, Zhihui Liu, Huijuan Zhu, Hui Pan, Zhaolin Lu · 2018 · BMC Endocrine Disorders
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- Expression of 11β-Hydroxylase (CYP11B1) and Aldosterone Synthase (CYP11B2) in the Human Fetal AdrenalWilliam A. Freije, Vincenzo Pezzi, Aydin M. Arici, Bruce Richard Carr, William E. Rainey · 1997 · Journal of the Society for Gynecologic Investigation
- Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiencyHuy Hoang Nguyen, Thu Hien Nguyen, Chi Dung Vu, Kim Thoa Nguyen, Bac Viet Le, Thanh Liêm Nguyễn, Nông Văn Hải · 2012 · Gene
- Congenital adrenal hyperplasia due to 11-hydroxylase deficiency—Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutationsChongjuan Gu, Hao Tan, Junbao Yang, Yilu Lu, Yongxin Ma · 2017 · Gene
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- Roux-en-Y gastric bypass in the treatment of non-classic congenital adrenal hyperplasia due to 11-hydroxylase deficiencyAmir Kalani, Nithin Thomas, Alan Scott Sacerdote, Gül Bahtiyar · 2013 · BMJ Case Reports
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- Gene mutations that promote adrenal aldosterone production, sodium retention, and hypertensionRichard Joseph Auchus, Andreas G. Moraitis, William E. Rainey · 2013 · The Application of Clinical Genetics
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