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

Goli Kazemi ¹ , Fatemeh Peymani ¹, Marzieh Mohseni ^1,2, Farzane Zare Ashrafi ¹, Sanaz Arzhangi ¹, Fariba Ardalani ¹, Fatemeh Aghakhani Moghaddam ¹, Kimia Kahrizi ¹, Hossein Najmabadi ¹ *

Cited by CrossRef: 2

1- Fauntleroy-Love K, Wilson T, Padem N, Golomb M. A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami. Child Neurology Open. 2023;10 [Crossref]

2- Amélie B, Julien T, Kevin Y, Marie‐Emmanuelle N, Jean‐Marc C, Fanny D, Marjolaine W, Klaus D, Véronique S, Charles C, Tanno P. Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report. American J of Med Genetics Pt A. 2025;197(3) [Crossref]

3- Al‐Hinai A, Al‐Hashmi S, Ganesh A, Al‐Hashmi N, Al‐Saegh A, Al‐Mamari W, Al‐Murshedi F, Al‐Thihli K, Al‐Kindi A, Al‐Maawali A. Further phenotypic delineation of Alazami syndrome. American J of Med Genetics Pt A. 2022;188(8):2485 [Crossref]

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A Monthly Peer-Reviewed Medical Journal Published by the Academy of Medical Sciences of the I.R. Iran; Indexed in PubMed/MEDLINE, ISI Web of Science, EMBASE, SCOPUS, CINHAL, PASCAL, CSA, SID, ISSN: Print 1029-2977, Online 1735-3947.The impact factor of Archives of Iranian Medicine according to Journal Citation Reports® (JCR®) 2016 is 1.20.