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,...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados