A carregar...
A case of Raine syndrome presenting with facial dysmorphy and review of literature
BACKGROUND: Raine syndrome (RS) – an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Man...
Na minha lista:
| Publicado no: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5948820/ https://ncbi.nlm.nih.gov/pubmed/29751744 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0593-x |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|