Open AccessClinical and genetic characteristics of ectodermal dysplasia in four Indian children
Author(s) -
Rohit Mahajan,
Divya Kamat,
Debajyoti Chatterjee,
Jaivinder Yadav,
Ravi Kumar,
Devi Dayal,
Dipankar De,
Sanjeev Handa
Publication year - 2022
Publication title -
indian journal of dermatology/indian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.395
H-Index - 36
eISSN - 1998-3611
pISSN - 0019-5154
DOI - 10.4103/ijd.ijd_406_21
Subject(s) - ectodermal dysplasia , hypohidrotic ectodermal dysplasia , medicine , dermatology , phenotype , mutation , genetics , gene , biology
Ectodermal dysplasias (EDs) affect structures derived from the ectoderm such as skin, its appendages, nail, and teeth. In this series, we describe four patients presenting with a clinical phenotype of dysplasia of one or more ectodermal structures who underwent next-generation sequencing for mutational analysis.