Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome - Archive ouverte HAL Access content directly
Journal Articles Orphanet Journal of Rare Diseases Year : 2014

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

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Abstract

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 metatarsal bones, and limited knee mobility bilaterally.
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Dates and versions

hal-02292662 , version 1 (18-10-2019)

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Marios Kambouris, Rachid C. Maroun, Tawfeg Ben-Omran, Yasser Al-Sarraj, Khaoula Errafii, et al.. Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome. Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.80. ⟨10.1186/1750-1172-9-80⟩. ⟨hal-02292662⟩
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