Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.
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DOI: 10.34172/aim.2020.112
Abstract: BACKGROUND Recently, we have reported mutations in LARP7 gene, leading to neurodevelopmental disorders (NDDs), the most frequent cause of disability in children with a broad phenotype spectrum and diverse genetic landscape. METHODS Here, we present… read more here.
Keywords: intellectual disability; disability; consanguineous families; two iranian ... See more keywords