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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Allergy, Asthma & Clinical Immunology
Subjects:
X-linked hypohidrotic ectodermal dysplasia
EDA
Atopy
Exome sequencing
Online Access:https://doi.org/10.1186/s13223-021-00510-z

Internet

https://doi.org/10.1186/s13223-021-00510-z

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