A first case report of hypohidrotic ectodermal dysplasia from Oman

This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome.

Detalles Bibliográficos
Autores principales: Al‐Araimi, Musallam, Hamza, Nishath, Al Hosni, Aliya, Al Mazrooey, Hiba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141724/
https://www.ncbi.nlm.nih.gov/pubmed/32274043
http://dx.doi.org/10.1002/ccr3.2723
Descripción
Sumario:This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome.

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