Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome

BACKGROUND: A consanguineous Arab family is affected by an apparently novel autosomal recessive disorder characterized by cognitive impairment, failure-to-thrive, hypotonia and dysmorphic features including bilateral ptosis and epicanthic folds, synophrys, midface hypoplasia, downturned mouth corner...

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Detalhes bibliográficos
Main Authors: Kambouris, Marios, Maroun, Rachid C, Ben-Omran, Tawfeg, Al-Sarraj, Yasser, Errafii, Khaoula, Ali, Rehab, Boulos, Hala, Curmi, Patrick A, El-Shanti, Hatem
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4070100/
https://ncbi.nlm.nih.gov/pubmed/24907849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-80
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