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...

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Hlavní autoři: Zaki, Maha S, Salam, Ghada M H Abdel, Saleem, Sahar N, Dobyns, William B, Issa, Mahmoud Y, Sattar, Shifteh, Gleeson, Joseph G
Médium: Artigo
Jazyk:Inglês
Vydáno: Wiley Subscription Services, Inc., A Wiley Company 2011
Témata:
Clinical Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3415795/
https://ncbi.nlm.nih.gov/pubmed/22002884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34078
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