Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails

BACKGROUND: Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss,...

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發表在:J Hum Genet
Main Authors: Kariminejad, Ariana, Ajeawung, Norbert Fonya, Bozorgmehr, Bita, Dionne-Laporte, Alexandre, Molidperee, Sirinart, Najafi, Kimia, Gibbs, Richard A, Lee, Brendan H, Hennekam, Raoul C, Campeau, Philippe M
格式: Artigo
語言:Inglês
出版: 2016
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5370204/
https://ncbi.nlm.nih.gov/pubmed/28003643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2016.151
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