Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway-Reference-Cited by-同舟云学术

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway

Published:2019-01-31 Issue:3 Volume:179 Page:442-447
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wright John Timothy¹^ORCID,Fete Mary²,Schneider Holm³,Zinser Madelaine²,Koster Maranke I.⁴⁵,Clarke Angus J.⁶,Hadj‐Rabia Smail⁷^ORCID,Tadini Gianluca⁸,Pagnan Nina⁹,Visinoni Atila F.¹⁰,Bergendal Birgitta¹¹,Abbott Becky¹²,Fete Timothy⁴¹³,Stanford Clark⁴¹⁴,Butcher Clayton¹⁵,D'Souza Rena N.¹⁶,Sybert Virginia P.¹⁷,Morasso Maria I.¹⁸

Affiliation:

1. Department of Pediatric Dentistry, Bauer Hall CB#7450School of Dentistry, University of North Carolina Chapel Hill North Carolina

2. National Foundation for Ectodermal Dysplasias Fairview Heights Illinois

3. Department of PediatricsUniversity Hospital Erlangen Erlangen Germany

4. NFED Scientific Advisory Council Fairview Heights Illinois

5. Dermatology and OphthalmologyUniversity of Colorado Anschutz Medical Campus Aurora Colorado

6. Cancer & Genetics, School of Medicine, Cardiff University Wales United Kingdom

7. Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), INSERM U1163, Descartes ‐ Sorbonne Paris Cité University, Imagine Institute, Necker‐Enfants Malades Universitary Hospital Paris France

8. Center for Inherited Cutaneous Diseases, Department of Pathophysiology and TransplantationUniversità degli Studi di Milano, Foundation IRCCS Ca’ Granda, Ospedale Maggiore Policlinico Milan Italy

9. Department of GeneticsFederal University of Parana Curitiba Brazil

10. Positivo University Curitiba Brazil

11. National Oral Disability Center for Rare DisordersThe Institute for Postgraduate Dental Education Jönköping Sweden

12. NFED for Treatment & Research Fairview Heights Illinois

13. Department of Child HealthUniversity of Missouri Columbia Missouri

14. University of Illinois at Chicago College of Dentistry Chicago Illinois

15. Departments of Medicine and Child HealthUniversity of Missouri School of Medicine Columbia Missouri

16. Academic Affairs and Education, Health SciencesThe University of Utah Salt Lake City Utah

17. Division of Medical Genetics, Department of MedicineUniversity of Washington School of Medicine Seattle Washington

18. Laboratory of Skin BiologyNational Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health Bethesda, MD

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61045

Reference30 articles.

1. Nosology and classification of genetic skeletal disorders: 2015 revision

2. Mutations inEDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

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

4. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

5. Ectodermal Dysplasias

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