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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...
Autores principales: | Kambouris, Marios, Maroun, Rachid C, Ben-Omran, Tawfeg, Al-Sarraj, Yasser, Errafii, Khaoula, Ali, Rehab, Boulos, Hala, Curmi, Patrick A, El-Shanti, Hatem |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4070100/ https://www.ncbi.nlm.nih.gov/pubmed/24907849 http://dx.doi.org/10.1186/1750-1172-9-80 |
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