Cargando…
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.
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
|
| Materias: | |
| 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 |