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Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.

Archives of Iranian medicine - 1 Dec 2020

Kazemi Goli, Peymani Fatemeh, Mohseni Marzieh, Zare Ashrafi Farzane, Arzhangi Sanaz, Ardalani Fariba, Aghakhani Moghaddam Fatemeh, Kahrizi Kimia, Najmabadi Hossein

Abstract excerpt

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 two Iranian patients from consanguineous families with syndromic intellectual disability, facial dysmorphism, and short stature. RESULTS: Whole-exome sequencing...

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Adolescent
Exome Sequencing
Facies
Growth Disorders
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Ribonucleoproteins

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PMID: 33356342
DOI: 10.34172/aim.2020.112

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