A carregar...
Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5′ Untranslated Region
OBJECTIVE: The aim of this study was to report clinical and molecular findings in an Emirati child with Marinesco-Sjögren syndrome born to consanguineous parents. CLINICAL PRESENTATION AND INTERVENTION: The child presented with developmental delay, ataxia, bilateral cataracts, and dysmorphic craniof...
Na minha lista:
| Publicado no: | Med Princ Pract |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2016
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5588509/ https://ncbi.nlm.nih.gov/pubmed/27544240 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000449225 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|