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...

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Detalles Bibliográficos
Autores principales: Nair, Pratibha, Hamzeh, Abdul Rezzak, Mohamed, Madiha, Tawfiq, Nafisa, Al-Ali, Mahmoud Taleb, Bastaki, Fatma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588509/
https://www.ncbi.nlm.nih.gov/pubmed/27544240
http://dx.doi.org/10.1159/000449225

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588509/
https://www.ncbi.nlm.nih.gov/pubmed/27544240
http://dx.doi.org/10.1159/000449225

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