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Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation
Open accessAbstract
We observed two unrelated consanguineous families with malformation syndromes sharing anophthalmia and distinct eyebrows as common signs, but differing for alveolar capillary dysplasia or complex congenital heart defect in one and diaphragmatic hernia in the other family. Homozygosity mapping revealed linkage to a common locus on chromosome 15, and pathogenic homozygous mutations were identified in STRA6, a member of a large group of "stimulated by retinoic acid" genes encoding novel transmembrane proteins, transcription factors, and secreted signaling molecules or proteins of largely unknown function. Subsequently, homozygous STRA6 mutations were also demonstrated in 3 of 13 patients chosen on the basis of significant phenotypic overlap to the original cases. While a homozygous deletion generating a premature stop codon (p.G50AfsX22) led to absence of the immunoreactive protein in patient's fibroblast culture, structural analysis of three missense mutations (P90L, P293L, and T321P) suggested significant effects on the geometry of the loops connecting the transmembrane helices of STRA6. Two further variations in the C-terminus (T644M and R655C) alter specific functional sites, an SH2-binding motif and a phosphorylation site, respectively. STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group.
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“STRA6 gene pathogenic variants are associated with Matthew-Wood syndrome, which is in eyes presented with anophthalmia [47,181,183,184,185,186].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [185]
In the citing paper
“STRA6 mutations during development can lead to anophthalmia, microphthalmia, and other symptoms that overlap with phenotypes associated with Matthew-Wood syndrome [33].”
From Vitamin A Transporters in Visual Function: A Mini Review on Membrane Receptors for Dietary Vitamin A Uptake, Storage, and Transport to the Eye (2021) · cites this paper as [33]
Citations
Cites
Krogh, A., Larsson, B., von Heijne, G., & Sonnhammer, E. L. L. (2001) · Journal of Molecular Biology · doi:10.1006/jmbi.2000.4315 · Cited by 12,654
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Nature Genetics · doi:10.1038/ng786 · Cited by 3,323
PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis
O'Connell, J. R., & Weeks, D. E. (1998) · The American Journal of Human Genetics · doi:10.1086/301904 · Cited by 2,063
NPS@: Network Protein Sequence Analysis
Combet, C., Blanchet, C., Geourjon, C., & Deléage, G. (2000) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(99)01540-6 · Cited by 1,761
Overview of retinoid metabolism and function
Blomhoff, R., & Blomhoff, H. K. (2006) · Journal of Neurobiology · doi:10.1002/neu.20242 · Cited by 981
TopPred II: an improved software for membrane protein structure predictions
Claros, M. G., & von HEIJNE, G. (1994) · Computer applications in the biosciences · doi:10.1093/bioinformatics/10.6.685 · Cited by 939
A Membrane Receptor for Retinol Binding Protein Mediates Cellular Uptake of Vitamin A
Kawaguchi, R., Yu, J., Honda, J., Hu, J., Whitelegge, J., Ping, P., Wiita, P., Bok, D., & Sun, H. (2007) · Science · doi:10.1126/science.1136244 · Cited by 836
Allegro, a new computer program for multipoint linkage analysis
Gudbjartsson, D. F., Jónasson, K., Frigge, M. L., & Kong, A. (2000) · Nature Genetics · doi:10.1038/75514 · Cited by 785
STAT proteins: From normal control of cellular events to tumorigenesis
Calò, V., Migliavacca, M., Bazan, V., Macaluso, M., Buscemi, M., Gebbia, N., & Russo, A. D. (2003) · Journal of Cellular Physiology · doi:10.1002/jcp.10364 · Cited by 616
ELM server: a new resource for investigating short functional sites in modular eukaryotic proteins
Puntervoll, P. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg545 · Cited by 597
Flagged first, then by citations
1 of the 38 references couldn’t be matched to a known paper.
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Retinoic acid signalling during development
Rhinn, M., & Dollé, P. (2012) · Development · doi:10.1242/dev.065938 · Cited by 849
Retinoic acid in development: Towards an integrated view
Niederreither, K., & Dollé, P. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2340 · Cited by 726
The Retinal Pigment Epithelium in Health and Disease
Sparrrow, J. R., Hicks, D., & Hamel, C. (2010) · Current Molecular Medicine · doi:10.2174/156652410793937813 · Cited by 655
Vitamin A metabolism: An update
D’Ambrosio, D. N., Clugston, R. D., & Blaner, W. S. (2011) · Nutrients · doi:10.3390/nu3010063 · Cited by 562
Stankiewicz, P., Sen, P., Bhatt, S., Storer, M. A., Xia, Z., Bejjani, B. A., Ou, Z., Wiszniewska, J., Driscoll, D. J., Bolivar, J., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.05.005 · Cited by 534
Hepatic stellate cell lipid droplets: A specialized lipid droplet for retinoid storage
Blaner, W. S., O'Byrne, S. M., Wongsiriroj, N., Kluwe, J., D'Ambrosio, D. M., Jiang, H., Schwabe, R. F., Hillman, E. M. C., Piantedosi, R., & Libien, J. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2008.11.001 · Cited by 444
Vitamin A in Reproduction and Development
Clagett-Dame, M., & Knutson, D. (2011) · Nutrients · doi:10.3390/nu3040385 · Cited by 439
“for a membrane RBP receptor [26,250], as well as to CDH-affected chromosome loci encoding for several other retinoid-related genes [251].”
BackgroundAnophthalmia and microphthalmia
Verma, A. S., & FitzPatrick, D. R. (2007) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-2-47 · Cited by 403
Self-citationRetinol and retinyl esters: biochemistry and physiology
O'Byrne, S. M., & Blaner, W. S. (2013) · Journal of Lipid Research · doi:10.1194/jlr.r037648 · Cited by 378
Retinoid pathway and cancer therapeutics
Bushue, N., & Wan, Y. Y. (2010) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2010.07.003 · Cited by 385
Function of retinoic acid receptors during embryonic development
Mark, M., Ghyselinck, N. B., & Chambon, P. (2009) · Nuclear Receptor Signaling · doi:10.1621/nrs.07002 · Cited by 363
From carrot to clinic: an overview of the retinoic acid signaling pathway
Theodosiou, M., Laudet, V., & Schubert, M. (2010) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-010-0268-z · Cited by 344
Kantarci, S., Al‐Gazali, L., Hill, R. S., Donnai, D., Black, G. C. M., Bieth, É., Chassaing, N., Lacombe, D., Devriendt, K., Teebi, A. S., et al. (2007) · Nature Genetics · doi:10.1038/ng2063 · Cited by 313
The genetic architecture of microphthalmia, anophthalmia and coloboma
Williamson, K. A., & FitzPatrick, D. R. (2014) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2014.05.002 · Cited by 269
Self-citationBishop, N. B., Stankiewicz, P., & Steinhorn, R. (2011) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201010-1697ci · Cited by 217
The neural crest in cardiac congenital anomalies
Keyte, A., & Hutson, M. R. (2012) · Differentiation · doi:10.1016/j.diff.2012.04.005 · Cited by 259
Genetic Factors in Congenital Diaphragmatic Hernia
Holder, A. M., Klaassens, M., Tibboel, D., de Klein, A., Lee, B., & Scott, D. A. (2007) · The American Journal of Human Genetics · doi:10.1086/513442 · Cited by 238
Scientific Opinion on Dietary Reference Values for vitamin A
EFSA Panel on Dietetic Products, N. (2015) · EFSA Journal · doi:10.2903/j.efsa.2015.4028 · Cited by 247
Berry, D. C., Jin, H., Majumdar, A., & Noy, N. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1011115108 · Cited by 204
Golzio, C., Martinovic-Bouriel, J., Thomas, S., Mougou-Zrelli, S., Grattagliano-Bessières, B., Bonnière, M., Delahaye, S., Munnich, A., Encha-Razavi, F., Lyonnet, S., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/518177 · Cited by 198
Hepatic stellate cell (vitamin A‐storing cell) and its relative – past, present and future
Senoo, H., Yoshikawa, K., Morii, M., Miura, M., Imai, K., & Mezaki, Y. (2010) · Cell Biology International · doi:10.1042/cbi20100321 · Cited by 198
Isken, A., Golczak, M., Oberhauser, V., Hunzelmann, S., Driever, W., Imanishi, Y., Palczewski, K., & von Lintig, J. (2008) · Cell Metabolism · doi:10.1016/j.cmet.2008.01.009 · Cited by 194
Congenital diaphragmatic hernias: from genes to mechanisms to therapies
Kardon, G., Ackerman, K. G., McCulley, D. J., Shen, Y., Wynn, J., Shang, L., Bogenschutz, E. L., Sun, X., & Chung, W. K. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.028365 · Cited by 187
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Diverse actions of retinoid receptors in cancer prevention and treatment
Mongan, N. P., & Gudas, L. J. (2007) · Differentiation · doi:10.1111/j.1432-0436.2007.00206.x · Cited by 182
HPLC/UV quantitation of retinal, retinol, and retinyl esters in serum and tissues
Kane, M. A., Folias, A. E., & Napoli, J. L. (2008) · Analytical Biochemistry · doi:10.1016/j.ab.2008.03.038 · Cited by 171
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Alapatt, P., Guo, F., Komanetsky, S. M., Wang, S., Cai, J., Sargsyan, A., Rodríguez Díaz, E., Bacon, B. T., Aryal, P., & Graham, T. E. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.369132 · Cited by 150
Berry, D. C., Jacobs, H., Marwarha, G., Gely-Pernot, A., O'Byrne, S. M., DeSantis, D., Klopfenstein, M., Feret, B., Dennefeld, C., Blaner, W. S., et al. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.484014 · Cited by 148
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Chen, Y., Clarke, O. B., Kim, J., Stowe, S., Kim, Y.-K., Assur, Z., Cavalier, M., Godoy-Ruiz, R., von Alpen, D. C., Manzini, C., et al. (2016) · Science · doi:10.1126/science.aad8266 · Cited by 148
Viard, I., Gaide, O., Jankovic, D. L., Feldmeyer, L., Kerl, K., Pickard, C., Roques, S., Friedmann, P. S., Contassot, E., & French, L. E. (2012) · Journal of Investigative Dermatology · doi:10.1038/jid.2012.330 · Cited by 143
Ahima, R. S., & Osei, S. Y. (2008) · Frontiers of hormone research · doi:10.1159/000115365 · Cited by 136
STRA6 is critical for cellular Vitamin A uptake and homeostasis
Amengual, J., Zhang, N., Kemerer, M., Maeda, T., Palczewski, K., & Von Lintig, J. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu258 · Cited by 134
Genetic aspects of human congenital diaphragmatic hernia
Pober Barbara, R. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.01031.x · Cited by 126
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Genetic causes of congenital diaphragmatic hernia
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Congenital Diaphragmatic Hernia: Comparison of Animal Models and Relevance to the Human Situation
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The Role of Vitamin A in Retinal Diseases
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Retinoids and Retinal Diseases
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“Mutations in STRA6 are associated with a severe developmental disorder known as the Matthew-Wood syndrome (Golzio et al. 2007, Pasutto et al. 2007).”
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Ruiz, A., Mark, M., Jacobs, H., Klopfenstein, M., Hu, J., Lloyd, M., Habib, S., Tosha, C., Radu, R. A., Ghyselinck, N. B., et al. (2012) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.11-8476 · Cited by 105
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Muenzner, M., Tuvia, N., Deutschmann, C., Witte, N., Tolkachov, A., Valai, A., Henze, A., Sander, L. E., Raila, J., & Schupp, M. (2013) · Molecular and Cellular Biology · doi:10.1128/mcb.00221-13 · Cited by 100
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Gerth‐Kahlert, C., Williamson, K. A., Ansari, M., Rainger, J. K., Hingst, V., Zimmermann, T., Tech, S., Guthoff, R. F., van Heyningen, V., & FitzPatrick, D. R. (2013) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2 · Cited by 96
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The influence of genetics in congenital diaphragmatic hernia
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Fregeau, B., Kim, B., Hernández, A., Jordan, V. K., Cho, M. T., Schnur, R. E., Monaghan, K. G., Juusola, J., Rosenfeld, J. A., Bhoj, E. J. K., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.03.002 · Cited by 93
Esmailpour, T., Riazifar, H., Liu, L., Donkervoort, S. C., Huang, V. H., Madaan, S., Shoucri, B. M., Busch, A., Wu, J., Towbin, A. J., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-101660 · Cited by 91
Receptor-mediated cellular uptake mechanism that couples to intracellular storage
Kawaguchi, R., Yu, J., Ter-Stepanian, M., Zhong, M., Cheng, G., Yuan, Q., Jin, M., Travis, G. H., Ong, D., & Sun, H. (2011) · ACS Chemical Biology · doi:10.1021/cb200178w · Cited by 91
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Rainger, J., Pehli̇van, D., Johansson, S., Bengani, H., Sánchez‐Pulido, L., Williamson, K. A., Türe, M., Barker, H. S., Rosendahl, K., Spranger, J. W., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.05.005 · Cited by 91
Self-citationRainger, J., van Beusekom, E., Ramsay, J. K., McKie, L., Al‐Gazali, L., Pallotta, R., Saponari, A., Branney, P., Fisher, M. E., Morrison, H., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002114 · Cited by 90
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Retina, retinol, retinal and the natural history of vitamin A as a light sensor
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Self-citationMakrythanasis, P., Nelis, M., Santoni, F. A., Guipponi, M., Vannier, A., Béna, F., Gimelli, S., Stathaki, E., Temtamy, S. A., Mégarbané, A., et al. (2014) · Human Mutation · doi:10.1002/humu.22617 · Cited by 87
González‐Rodríguez, J., Pelcastre-Luna, E., Tovilla-Canales, J. L., García‐Ortíz, J. E., Amato-Almanza, M., Villanueva‐Mendoza, C., Espinosa-Mattar, Z., & Zenteno, J. C. (2010) · British Journal of Ophthalmology · doi:10.1136/bjo.2009.173500 · Cited by 84
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LaHaye, S., Corsmeier, D., Basu, M., Bowman, J. L., Fitzgerald‐Butt, S. M., Zender, G. A., Bosse, K. M., McBride, K. L., White, P., & Garg, V. (2016) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.115.001324 · Cited by 83
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Reis, L. M., & Semina, E. V. (2015) · Birth Defects Research Part C Embryo Today Reviews · doi:10.1002/bdrc.21097 · Cited by 82
Yavi, M., Abouzeid, H., Gawdat, G. I., de Preux, A.-S., Xiao, T., Bardakjian, T., Schneider, A. S., Choi, A., Jorgenson, E., Baier, H., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt179 · Cited by 86
Self-citationCasey, J. P., Kawaguchi, R., Morrissey, M. E., Sun, H., McGettigan, P., Nielsen, J. E., Conroy, J., Regan, R., Kenny, E. M., Cormican, P., et al. (2011) · Human Mutation · doi:10.1002/humu.21590 · Cited by 77
Chou, C. M., Nelson, C., Tarlé, S. A., Pribila, J. T., Bardakjian, T., Woods, S., Schneider, A., & Glaser, T. (2015) · Cell · doi:10.1016/j.cell.2015.03.006 · Cited by 76
Kishi, J. Y., Liu, N., West, E. R., Sheng, K., Jordanides, J. J., Serrata, M. P., Cepko, C. L., Saka, S. K., & Yin, P. (2022) · Nature Methods · doi:10.1038/s41592-022-01604-1 · Cited by 80
Clugston, R. D., Zhang, W., Álvarez, S., de Lera, Á. R., & Greer, J. J. (2009) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2009-0076oc · Cited by 76
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El‐Hattab, A. W., Smolarek, T. A., Walker, M. E., Schorry, E. K., Immken, L. L., Patel, G. S., Abbott, M., Lanpher, B. C., Ou, Z., Kang, S.-H. L., et al. (2009) · Human Genetics · doi:10.1007/s00439-009-0706-x · Cited by 77
Ackerman, K. G., & Pober, B. R. (2007) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30133 · Cited by 76
Slavotinek, A. M. (2018) · Human Genetics · doi:10.1007/s00439-018-1949-1 · Cited by 75
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Pavone, M. E., Reierstad, S., Sun, H., Milad, M., Bulun, S. E., & Cheng, Y.-H. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0459 · Cited by 74
Kim, Y., & Quadro, L. (2010) · Methods in molecular biology · doi:10.1007/978-1-60327-325-1_15 · Cited by 76
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Metadata
- Authors
- Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., FitzPatrick, D. R., Nürnberg, G., Brasch, F., Schirmer-Zimmermann, H., Tolmie, J. L., Chitayat, D., Houge, G., Fernández-Martínez, L., Keating, S., Mortier, G., Hennekam, R. C. M., von der Wense, A., Slavotinek, A., Meinecke, P., Bitoun, P., Becker, C., Nürnberg, P., Reis, A., & Rauch, A.
- Affiliations
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Cnopf´sche Kinderklinik (DE)
- MRC Human Genetics Unit (GB)
- University of Cologne (DE)
- Klinikum Bremen-Mitte (DE)
- Haukeland University Hospital (NO)
- Mount Sinai Hospital (CA)
- Ghent University Hospital (BE)
- Great Ormond Street Hospital (GB)
- University of California, San Francisco (US)
- Altonaer Kinderkrankenhaus (DE)
- Hôpital Jean-Verdier (FR)
- Corresponding author
- Rauch, Anita
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-03
- Volume
- 80
- Issue
- 3
- Pages
- 550-560
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1821097
- OpenAlex
- W2017461303
- Cited by
- 361
- References
- 38
- Citations by year
- 2026: 4 · 2025: 15 · 2024: 12 · 2023: 9 · 2022: 16 · 2021: 27 · 2020: 20 · 2019: 22 · 2018: 11 · 2017: 13 · 2016: 19 · 2015: 19 · 2014: 26 · 2013: 23 · 2012: 20
- FWCI
- 22.06
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- Digital Access to Libraries (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Funders
- Deutsche Forschungsgemeinschaft (SFB 539)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Health Sciences › Medicine › Ophthalmology › Ocular Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- STRA6, anophthalmia, congenital heart disease, diaphragmatic hernia, alveolar capillary dysplasia, pulmonary hypoplasia, intellectual disability, consanguinity, homozygous mutation, missense mutations, nonsense mutation, chromosome 15, retinoic acid signaling, consanguineous family
- MeSH terms
- Abnormalities, Multiple, Adolescent, Adult, Amino Acid Sequence, Anophthalmos, Capillaries, Consanguinity, Female, Heart Defects, Congenital, Hernia, Diaphragmatic, Humans, Infant, Infant, Newborn, Lung, Male, Membrane Proteins, Intellectual Disability, Molecular Sequence Data, Mutation, Pedigree, Phosphorylation, Pulmonary Alveoli, Receptors, Cell Surface, Sequence Homology, Amino Acid
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