Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation

BACKGROUND: To identify the genetic defect associated with autosomal recessive congenital cataract (ARCC), mental retardation (MR) and ARCC, MR and microcephaly present in most patients in four Tunisian consanguineous families. METHODS: We screened four genes implicated in congenital cataract by dir...

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Autores principales: Chograni, Manèl, Chaabouni, Myriam, Mâazoul, Faouzi, Bouzid, Hedi, Kraiem, Abdelhafid, Chaabouni, Habiba B Bouhamed
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3258189/
https://ncbi.nlm.nih.gov/pubmed/22103961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2415-11-35
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