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

CONCLUSION: These identified variants in patients with Alazami syndrome were consistent with previously reported loss of function variants in LARP7 and provide further evidence that loss of function of LARP7 is the disease mechanism. PMID: 33356342 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/33356342?dopt=Abstract

Source: Archives of Iranian Medicine - December 1, 2020 Category: Middle East Health Authors: Kazemi G, Peymani F, Mohseni M, Zare Ashrafi F, Arzhangi S, Ardalani F, Aghakhani Moghaddam F, Kahrizi K, Najmabadi H Tags: Arch Iran Med Source Type: research