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Article

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

Orphanet journal of rare diseases - 7 Jun 2014

Kambouris Marios, Maroun Rachid C, Ben-Omran Tawfeg, Al-Sarraj Yasser, Errafii Khaoula, Ali Rehab, Boulos Hala, Curmi Patrick A, El-Shanti Hatem

Abstract excerpt

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 corners, thin upper vermillion border and prominent ears, bilateral 5th finger camptodactyly, bilateral short 4th...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24907849
DOI: 10.1186/1750-1172-9-80
PMCID: PMC4070100

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