A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss

Primary microcephaly is a genetically heterogeneous condition characterized by reduced head circumference (−3 SDS or more) and mild-to-moderate learning disability. Here, we describe clinical and molecular investigations of a microcephalic child with sensorineural hearing loss. Although consanguinit...

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Bibliografiska uppgifter
Huvudupphovsmän: Pagnamenta, Alistair T, Murray, Jennie E, Yoon, Grace, Akha, Elham Sadighi, Harrison, Victoria, Bicknell, Louise S, Ajilogba, Kaseem, Stewart, Helen, Kini, Usha, Taylor, Jenny C, Keays, David A, Jackson, Andrew P, Knight, Samantha JL
Materialtyp: Artigo
Språk:Inglês
Publicerad: Wiley Subscription Services, Inc., A Wiley Company 2012
Ämnen:
Clinical Reports
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3470702/
https://ncbi.nlm.nih.gov/pubmed/22887808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35558
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