Journal article
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome
Orphanet journal of rare diseases, Vol.9(1), pp.80-80
2014
DOI: 10.1186/1750-1172-9-80
PMCID: PMC4070100
PMID: 24907849
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.
Details
- Title: Subtitle
- Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome
- Creators
- Marios Kambouris - Qatar Biomedical Research InstituteRachid C. Maroun - Université d'Évry Val-d'EssonneTawfeg Ben-Omran - Hamad Medical CorporationYasser Al-Sarraj - Qatar Biomedical Research InstituteKhaoula Errafii - Qatar Biomedical Research InstituteRehab Ali - Hamad Medical CorporationHala Boulos - Shafallah CenterPatrick Curmi - Université d'Évry Val-d'EssonneHatem El-Shanti - Qatar Biomedical Research Institute
- Resource Type
- Journal article
- Publication Details
- Orphanet journal of rare diseases, Vol.9(1), pp.80-80
- DOI
- 10.1186/1750-1172-9-80
- PMID
- 24907849
- PMCID
- PMC4070100
- NLM abbreviation
- Orphanet J Rare Dis
- ISSN
- 1750-1172
- eISSN
- 1750-1172
- Publisher
- BioMed Central
- Language
- English
- Date published
- 2014
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984353942502771
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