New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

We identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. They also shared distinct facial features and sim...

Descripción completa

Detalles Bibliográficos
Autores principales: Zaki, Maha S, Salam, Ghada M H Abdel, Saleem, Sahar N, Dobyns, William B, Issa, Mahmoud Y, Sattar, Shifteh, Gleeson, Joseph G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415795/
https://www.ncbi.nlm.nih.gov/pubmed/22002884
http://dx.doi.org/10.1002/ajmg.a.34078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415795/
https://www.ncbi.nlm.nih.gov/pubmed/22002884
http://dx.doi.org/10.1002/ajmg.a.34078

Ejemplares similares