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

by 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
Published 2021-01-01

Mutation detection and prenatal diagnosis of XLHED pedigree

by Yao Lin, Wei Yin, Zhuan Bian
Published 2017-08-01

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

by Laura Körber, Holm Schneider, Nicole Fleischer, Sigrun Maier-Wohlfart
Published 2021-02-01

Dysplasie ectodermique hypohidrotique : mise en évidence de nouveaux marqueurs phenotypiques crâniens et post-crâniens chez le mutant Tabby

by Gros, Catherine-Isabelle
Published 2013