De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome. Issue 8 (28th June 2019)

• Record Type: Journal Article
• Authors: Soler‐Cardona, Ana; Brandau, Oliver; Laccone, Franco; Tanew, Adrian; Radakovic, Sonja
• Is Part Of: Clinical case reports. Volume 7:Issue 8(2019)
• Page Start: 1522
• Page End: 1525
• Publication Date: 2019-06-28
• Subjects: alopecia -- cataract -- genodermatosis -- pigmentary disorders; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.2213
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: 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. Abstract : 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.