Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Cluzeau, Céline, Hadj-Rabia, Smail, Jambou, Marguerite, Mansour, Sourour, Guigue, Philippe, Masmoudi, Sahben, Bal, Elodie, Chassaing, Nicolas, Vincent, Marie-Claire, Viot, Géraldine, Clauss, François, Manière, Marie-Cécile, Toupenay, Steve, Le Merrer, Martine, Lyonnet, Stanislas, Cormier-Daire, Valérie, Amiel, Jeanne, Faivre, Laurence, de Prost, Yves, Munnich, Arnold, Bonnefont, Jean-Paul, Bodemer, Christine, Smahi, Asma·2011·Human Mutation
DOI 10.1002/humu.21384

Cited by (312)

Items 201–300 of 312

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  2. Anhidrotic ectodermal dysplasia: a case report in a Nigerian child and literature review
    A-WBR Johnson, Aishatu Ahmed Abdulkarim, OT Adedoyin, AO Adegboye, A. O. Amole · 2012 · Nigerian Journal of Paediatrics
  3. Cutaneous clues for diagnosing X‐chromosomal disorders
    Maaike Vreeburg, Suzanne C.E.H. Sallevelt, Alexander P.A. Stegmann, Michel van Geel, Yvonne Detisch, Constance T.R.M. Schrander-Stumpel, Maurice A. M. Van Steensel, Dominique Marcus‐Soekarman · 2013 · Clinical Genetics
  4. Salivary Gland Diseases
    Astrid Rasmussen, Christopher J. Lessard, Kathy L. Moser Sivils · 2015 · Springer eBooks
  5. First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?
    Mario Tumminello, Antonella Gangemi, Federico Matina, Melania Guardino, Bianca Lea Giuffrè, Giovanni Corsello · 2021 · The Italian Journal of Pediatrics/Italian journal of pediatrics
  6. Disorders of Hair and Nails
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  7. CpGeneAge: multi-omics aging clocks associated with Nf-κB signaling pathway in aging
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  8. Submandibular gland epithelial development and the importance of junctions
    Hélène Bonnet, Carlos Agustín Isidro Alonso, Indra Rani Gupta · 2022 · Tissue Barriers
  9. Displasia Ectodérmica Hipohidrótica: un Síndrome de Interés para la Odontología
    Nilton Alves, Reinaldo José de Oliveira, Naira Figueiredo Deana · 2012 · International journal of odontostomatology
  10. EDA ligand triggers plasma membrane trafficking of its receptor EDAR via PKA activation and SNAP23-containing complexes
    Yuyuan Yao, Ruihan Yang, Jian Zhu, David Schlessinger, Jian Sima · 2023 · Cell & Bioscience
  11. A Novel Missense Mutation at EDA2R Gene Identified in a Case Study Associated with Hypohidrotic Ectodermal Dysplasia
    Wan Jou Yang, Siyu Jin, Jie Jiang, Wei Ji, Qing He · 2025 · Regenerative medicine and dentistry.
  12. Current Genetics in Hair Diseases
    Yutaka Shimomura · 2013 · InTech eBooks
  13. Displasia ectodérmica hipohidrótica: Reporte de casos
    M.L. Marín Botero, Gabriel Espinal Botero, Trejo Fuentes, M.V. Posso Zapata, M. David Pérez, D.A. Castañeda Peláez, Jairo Pérez · 2013 · Avances en Odontoestomatología
  14. Novel nonsense mutation of the EDA gene in a C hinese family with X ‐linked hypohidrotic ectodermal dysplasia
    Hao Wang, Le‐si Xie · 2014 · The Journal of Dermatology
  15. Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
    Toshihide Higashino, John Y.W. Lee, John Alexander McGrath · 2017 · Expert Opinion on Orphan Drugs
  16. Orofacial features of hypohidrotic ectodermal dysplasia
    2012 · Oral Surgery Oral Medicine Oral Pathology and Oral Radiology
  17. Application of digital virtual simulated design in the prosthodontic rehabilitation of a child with a novel EDA mutation in ectodermal dysplasia: A clinical report
    Chen Yang, Wenxia Chen, Jia Gao, Shengbin Huang · 2024 · Journal of Prosthetic Dentistry
  18. Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child
    Rabah Mohamed Shawky, Radwa Gamal · 2015 · Egyptian Journal of Medical Human Genetics
  19. Treatment of Nonsyndromic Anomalies of Tooth Number
    Lyndon F. Cooper · 2015 · Springer eBooks
  20. WNT10A-mutaties als verklaring voor tandagenesie
    H. Backaert · 2014 · Nederlands Tijdschrift voor Tandheelkunde
  21. Genetic diagnosis for X‐linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation
    Xin Ma, Xue Lv, Hong‐yan Liu, Xing Wu, Li Wang, Hao Li, Haiyan Chou · 2018 · Journal of Clinical Laboratory Analysis
  22. Displasia ectodérmica hipohidrótica ligada al cromosoma X de novo por variante recurrente en un paciente mexicano
    MiguelAngel Noriega-Juárez, Constanza García‐Delgado, América Villaseñor-Domínguez, Carlos Mena‐Cedillos, Mirna Eréndira Toledo-Bahena, Adriana Valencia, Patricia Baeza-Capetillo, Alicia Cervantes, Verónica Fabiola Morán-Barroso, Nancy Monroy‐Jaramillo · 2020 · Boletín Médico del Hospital Infantil de México
  23. Hypohidrotic Ectodermal Dysplasia
    Harold Chen · 2016 · Springer eBooks
  24. WNT10A variant and severe scoliosis?
    Piranit Nik Kantaputra, Bjorn Reino Olsen, John Alexander McGrath · 2022 · The Journal of Dermatology
  25. Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
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  26. Rheological analysis of saliva samples in the context of phonation in ectodermal dysplasia
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  28. Prosthetic and implant rehabilitation in hypohidrotic ectodermal dysplasia: A 13-year follow-up.
    E. Anitua, L. Piñas, M. Alkhraisat · 2025 · The Journal of prosthetic dentistry (Print)
  29. Actualización en displasia ectodérmica hipohidrótica
    Silvia Alejandra González Cerrato, T. Cacharrón Caramés, Rosa M. Fernández Torres, Aldara Díaz Pedrouzo, Esther Novoa García · 2014 · Piel
  30. Odontogénétique : initiation, morphogenèse dentaire et maladies rares associées
    Muriel de La Dure‐Molla, Ariane Berdal · 2016
  31. Characterization of a novel gross deletion and insertion mutation in EDA gene causing hypohidrotic ectodermal dysplasia
    Junhui Sun, Liang Chen, Shuai Han, Yang He, Alexandru George Dumitru, Weibin Zhou, Jiali Cai, Ming Qi · 2020 · The Journal of Dermatology
  32. HED (Hypohidrotic Ectodermal Dysplasia): A Review
    Michele Callea, Francisco Cammarata Scalisi, İzzet Yavuz, Mehmet Sinan Doğan, Colin Eric Willoughby, Murali Dharan Bashyam · 2021 · Ulster University Research Portal (Ulster University)
  33. Wnt10a missense gene polymorphism association with obesity risk: List of literature and a case-control study with Roc analysis for serum β-catenin level in Egypt
    Noha Mohamed Said, Fathy Ahmed Yassin, Elham Abd Elkreem · 2022 · Gene Reports
  34. Different degree of loss‐of‐function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity
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  35. Molecular Basis of Hereditary Hair Diseases
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  36. A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
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  37. The oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel EVC2 variant
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  38. A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia
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  39. Ectodermal Dysplasia and Other Genetic Syndromes Associated with Hair Loss
    Adriana Rakowska, Małgorzata Olszewska, Lidia Rudnicka · 2012 · Springer eBooks
  40. Effect of an EDA-A1 gene mutant on the proliferation and cell cycle distribution of cultured human umbilical vein endothelial cells
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  41. Sequence analysis of candidate genes in two Roma families with severe tooth agenesis
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  42. Hereditary and Congenital Nail Disorders
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  43. A case of multiple oral cancers in the patient with hypohidrotic ectodermal dysplasia
    Takanori Kobayashi, Akihiko Iida, Kaya Narimatsu, Yutaka Shimomura · 2022 · Journal of Oral and Maxillofacial Surgery Medicine and Pathology
  44. Ectodermal Dysplasias
    Peter H Itin · 2016 · Wiley eBooks
  45. Current and Novel Approaches for Genetic Skin Disorders
    Joey E. Lai‐Cheong, Amy S. Paller · 2013 · Springer eBooks
  46. Genetic investigations in Christ-Siemens-Touraine and Papillon-Lefèvre Syndrome in the eyes of the dentist
    Péter Vályi · 2014
  47. Displasia ectodérmica anhidrótica asociada a déficit de lectina de unión a manosa
    Isabel Delgado Pecellı́n, Y.M. Castillo Reguera, Carmen Delgado Pecellín, M.A. Bueno Delgado, Juan Pedro González Valencia, Ignacio Obando, Olaf Neth · 2012 · Anales de Pediatría
  48. Poikiloderma, hyperpigmentation, alopecia, hypohidrosis, malformed bones, lymphedema of the legs and decreased cortisol level: A new entity?
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  49. MSX1 in relation to clefting. hypodontia and hydrocephaly in humans
    Marie‐José H. van den Boogaard · 2013 · Utrecht University Repository (Utrecht University)
  50. HYPOHYDROTIC ECTODERMAL DYSPLASIA: A CLINICAL CASE REPORT
    Michele Callea, Michela Paglia, Emrullah Bahşi, Mariateresa Di Stazio, Bayram İnce, Giulia Fedele, Yasemin Yavuz, Luigi Paglia · 2014
  51. Novel ALOX12B mutation identified in parents following single nucleotide polymorphism microarray testing of banked DNA from a fatal case of congenital ichthyosis
    Katta M. Girisha, Smrithi Salian, Ashish Kumar Gupta, Anju Shukla · 2016 · Indian Journal of Dermatology
  52. A case of anhidrotic ectodermal dysplasia with a missense mutation in the EDA gene
    Seishi Yamaguchi, Junichiro Machida, Masashi Kimura, Akio Shibata, Atsuo Kaetsu, Kazuo Shimozato · 2013 · Japanese Journal of Oral & Maxillofacial Surgery
  53. Case Report: X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency and an unusual Aspergillus infection
    Tahaamin Shokuhfar, Zahra Mo’mmen, Elnaz Panah, Abdollvahhab Alborzei, Babak Torabi Sagvand, Asghar Aghamohamadi · 2016 · F1000Research
  54. Title- Hypohydrotic Ectodermal Dysplasia- A Case Report with Review of Literature
    Ali Zamil Mushettet Raafat Raoof Ahmed, Fuoad Al-Bayati, Shishir Ram Shetty, Arab Emirates, United Arab Emirates · 2015 · Journal of Clinical Case Reports
  55. 日本皮膚科学会ガイドライン 無汗(低汗)性外胚葉形成不全症の診療手引き
    日本皮膚科学会「無汗性外胚葉形成不全症診療手引き」作成委員会, Takichi Munetsugu, 中里 良彦, 室田 浩之, 佐藤 貴浩, Masato Asahina, 下村 裕, 新関 寛徳, 藤本智子, 横関 博雄 · 2018 · 日本皮膚科学会雑誌
  56. Etiología, manifestaciones clínicas y estudio por imágenes de la displasia ectodérmica: Una revisión de la literatura
    María Mercedes Rodríguez · 2019 · Revista Científica Odontológica
  57. Dysplasies ectodermiques
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  58. Hereditary Hair Diseases (part 2)
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  59. A Novel Nonsense Mutation in the EDA Gene Causing X-Linked Hypohidrotic Ectodermal Dysplasia
    Junxia Zhu · 2018 · Biomedical Journal of Scientific & Technical Research
  60. CRISPR/Cas9 Sistemi Kullanılarak Ectodysplasin A (eda) İfade Etmeyen Zebra Balığı Üretimi
    Cunfang Zhang, Linyong Hu, Sijia LIU, Wen Wang, Kai Zhao · 2020 · Kafkas Universitesi Veteriner Fakultesi Dergisi
  61. Reabilitação oral em paciente pediátrico portador de displasia ectodérmica hipoidrótica: relato de caso
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  62. Case of X‐linked hypohidrotic ectodermal dysplasia, along with facial bilateral reticular pigmentation
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  63. Zygomatic Implants in Congenital Defects
    Yiqun Wu, Kuo Feng Hung, Feng Wang, Wei Huang · 2020 · Springer eBooks
  64. WNT10A variants are associated with non-syndromic tooth agenesis in the general population
    Shujuan SongRuiying ZhaoHuiying He · 2014
  65. Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
    Andrew J. Aman, Lauren M. Saunders, August A. Carr, Sanjay R Srivatsan, Colten D. Eberhard, Blake Carrington, Dawn E. Watkins‐Chow, William J. Pavan, Cole Trapnell, David M. Parichy · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
  66. Dysplazje ektodermalne – mechanizmy molekularne odpowiedzialne za występowanie najczęstszych zespołów chorobowych
    Alicja Monika Grabarczyk, Katarzyna Wertheim‐Tysarowska, Jerzy Bal · 2021 · Postępy Biochemii
  67. A Novel Missense Mutation in the EDAR Gene and One Missense Mutation in EDA Gene in the Study of HED Patients in Iran
    Atefe Papi, Saeedreza Khatami, Hamid Galehdari, Gholamreza Shariati · 2021 · Iranian Journal of Pediatrics
  68. First Report of X-Linked Hypohidrotic Ectodermal Dysplasia with a Hemizygous c.1142G >C in the EDA Gene: Variant of Uncertain Significance or New Pathogenic Variant?
    Mario Tumminello, Antonella Gangemi, Federico Matina, Melania Guardino, Bianca Lea Giuffrè, Giovanni Corsello · 2021 · Research Square
  69. Bibliography
    2012 · Elsevier eBooks
  70. Rehabilitación protésica en paciente pediátrico con displasia ectodérmica
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  71. Hereditary and Congenital Nail Disorders
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  72. XÁC ĐỊNH ĐỘT BIẾN GEN EDA Ở BỆNH NHÂN VIỆT NAM MẮC LOẠN SẢN NGOẠI BÌ THIẾU TUYẾN MỒ HÔI
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  73. Ectodermal Dysplasia
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  74. Zahnärztliche Versorgung von zwei Kindergartenkindern mit ektodermaler Dysplasie–Kasuistik
    Peter Schmidt · 2019 · Oralprophylaxe & Kinderzahnheilkunde
  75. Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines
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  76. Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree
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  77. Hypohidrotic hereditary ectodermal dysplasia: A case report
    Sanpreet Singh Sachdev, Dimple Padawe, Ankita Khade, Vilas S Takate, Kishor Dighe · 2023 · IP International Journal of Medical Paediatrics and Oncology
  78. A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia
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  79. Novel insight into the ectodermal dysplasia 11A : Splicing variant of the EDARADD gene in a family with clinical variability and literature review
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  81. Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
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  82. Reporte de caso: rehabilitación oral protésica en paciente pediátrico edéntulo parcial
    Jessica Angelica De La Cruz Solórzano · 2022 · Universidad Privada San Juan Bautista
  83. Ectodermal Dysplasias
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  84. Detection of an EDA mutation causing hypohidrotic ectodermal dysplasia in a Vietnamese patient
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  85. Disorders of Epidermal Maturation, Keratinization, and Connective Tissues
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  86. Ectodermal Dysplasias
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  87. Novel Ectodysplasin-A Variants: Structural and Functional Basis of Hypohidrotic Ectodermal Dysplasia
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  88. Broad Phenotypic Spectrum of Ectodermal Dysplasias in Childhood and Adolescence
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  89. A case of orthognathic surgery for jaw deformity with hypohidrotic ectodermal dysplasia
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  90. Ektodermal Displazili Hastaların Klinik ve İmmunolojik Özellikleri
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  91. Novel EDARADD Variant in Ectodermal Dysplasia Unveiled by Whole-Exome Sequencing
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  92. Oral Rehabilitation Of A 4-Year-Old Child With ChristSiemens-Touraine Syndrome
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  93. Dysplasie ectodermique hypohidrotique liée au chromosome X
    J. Boulanger, A.‐C. Bursztejn, Smail Hadj-Rabia · 2025 · Annales de Dermatologie et de Vénéréologie - FMC
  94. Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases
    Zeynep Esener, Mehmet Akif Yücesoy, Alper Gezdirici, Mustafa Doğan, Ayberk Türkyılmaz, İbrahim Tekedereli, Hasan Baş, Aysel Tekmenuray‐Unal, Sinem Kocagil, Şenol Çitli et al. · 2025 · Clinical Genetics
  95. Treatment of Non-syndromic Anomalies of Tooth Number
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  96. Additional file 1 of Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature
    Kablan, Ahmet, Elifcan Taşdelen · 2024 · Figshare
  97. Additional file 1 of Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review
    Marina Cerezo-Cayuelas, Amparo Pérez Silva, Clara Serna Muñoz, Ascensión Vicente, Yolanda Martínez Beneyto, Inmaculada Cabello, Ortiz-Ruiz, Antonio José · 2022 · Figshare
  98. Additional file 1 of EDA ligand triggers plasma membrane trafficking of its receptor EDAR via PKA activation and SNAP23-containing complexes
    Yuyuan Yao, Ruihan Yang, Jian Zhu, Schlessinger, David, Jian Sima · 2024 · Figshare
  99. Additional file 2 of Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia
    Yiting Liu, Sun, Jing, Caiqi Zhang, Yi Wu, Siyuan Ma, Li, Xuechun, Wu, Xiaoshan, Gao, Qingping · 2024 · Figshare
  100. Additional file 1 of Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia
    Yiting Liu, Sun, Jing, Caiqi Zhang, Yi Wu, Siyuan Ma, Li, Xuechun, Wu, Xiaoshan, Gao, Qingping · 2024 · Figshare