A carregar...
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro‐fronto‐facial syndrome
BACKGROUND: Mutations of the filamin A locus (FLNA) on Xq28 have been established in girls with periventricular nodular heterotopia and in patients with otopalatodigital and overlapping phenotypes, the pathogenesis of these phenotypes being thought to be quite distinct. To date only six male cases o...
Na minha lista:
| Main Authors: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
BMJ Group
2006
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2564542/ https://ncbi.nlm.nih.gov/pubmed/16299064 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.038505 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|