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

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 describe a f...

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Detalles Bibliográficos
Autores principales: Modi, Bhavi P., Del Bel, Kate L., Lin, Susan, Sharma, Mehul, Richmond, Phillip A., van Karnebeek, Clara D. M., Chan, Edmond S., Avinashi, Vishal, Rehmus, Wingfield E., Biggs, Catherine M., Wasserman, Wyeth W., Turvey, Stuart E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809757/
https://www.ncbi.nlm.nih.gov/pubmed/33446255
http://dx.doi.org/10.1186/s13223-021-00510-z

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