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De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi-Hunermann-Happle syndrome.

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.

SUBMITTER: Soler-Cardona A

PROVIDER: S-EPMC6692985 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature

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De novo mutation of emopamil binding protein (<i>EBP</i>) gene in a girl with Conradi-Hünermann-Happle syndrome.

Soler-Cardona Ana A Brandau Oliver O Laccone Franco F Tanew Adrian A Radakovic Sonja S

Clinical case reports 20190628 8

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. ...[more]

PMID: 31428380

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