Open AccessDe novo mutation of emopamil binding protein ( EBP ) gene in a girl with Conradi‐Hünermann‐Happle syndrome
Author(s) -
SolerCardona Ana,
Brandau Oliver,
Laccone Franco,
Tanew Adrian,
Radakovic Sonja
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2213
Subject(s) - missense mutation , gene , medicine , mutation , genetics , biology
Conradi‐Hünermann‐Happle syndrome is a rare X‐linked dominant syndrome affecting the skin, skeletal system, and eyes. Here, we report on a female patient with a de novo heterozygous missense mutation c.301C>T (p.Trp101Arg) of the EMP (emopamil binding protein) gene.