Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation

Basel-Vanagaite-Smirin-Yosef syndrome (OMIM 616449) is a rare autosomal recessive genetic disorder characterized by severe developmental delay and variable craniofacial, neurological, cardiac, and ocular anomalies in the presence of variants in the MED25 gene. So far, only a handful of patients have...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Mol Syndromol
Main Authors: Nair, Pratibha, Sabbagh, Sandra, Bizzari, Sami, Brunner, Florian, Stora, Samantha, Al-Ali, Mahmoud T., Gencik, Martin, El-Hayek, Stephany, Mégarbané, André
Formato: Artigo
Idioma:Inglês
Publicado: S. Karger AG 2019
Assuntos:
Short Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6738245/
https://ncbi.nlm.nih.gov/pubmed/31602195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000501114
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares