De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome

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.

Detalles Bibliográficos
Autores principales: Soler‐Cardona, Ana, Brandau, Oliver, Laccone, Franco, Tanew, Adrian, Radakovic, Sonja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692985/
https://www.ncbi.nlm.nih.gov/pubmed/31428380
http://dx.doi.org/10.1002/ccr3.2213

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692985/
https://www.ncbi.nlm.nih.gov/pubmed/31428380
http://dx.doi.org/10.1002/ccr3.2213

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