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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Wiley Subscription Services, Inc., A Wiley Company 2012
विषय:
Clinical Reports
ऑनलाइन पहुंच: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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