Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Abstract X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasia. Clinical and genetic heterogeneity between different ectodermal dysplasia types and evidence of incomplete penetrance and variable expressivity increase the potential for misdiagnosis. We des...

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Detalhes bibliográficos

Principais autores:	Bhavi P. Modi, Kate L. Del Bel, Susan Lin, Mehul Sharma, Phillip A. Richmond, Clara D. M. van Karnebeek, Edmond S. Chan, Vishal Avinashi, Wingfield E. Rehmus, Catherine M. Biggs, Wyeth W. Wasserman, Stuart E. Turvey
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2021-01-01
coleção:	Allergy, Asthma & Clinical Immunology
Assuntos:	X-linked hypohidrotic ectodermal dysplasia EDA Atopy Exome sequencing
Acesso em linha:	https://doi.org/10.1186/s13223-021-00510-z
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