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Article

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

European journal of pediatrics - 11 Mar 2026

Sharaf-Eldin Wessam, Ghorab Raghda M, Rafat Karima, Mahmoud Heba, Hassib Nehal, Alahlafi Abdelaziz, Maroofian Reza, Gleeson Joseph G, Essawi Mona, Zaki Maha S

Abstract excerpt

Alazami syndrome is a neurodevelopmental disorder characterized by postnatal growth retardation, moderate to severe intellectual disability, and facial dysmorphology. It is caused by biallelic variants in the transcriptional regulator La ribonucleoprotein 7 (LARP7), where frameshift variants accounted for the majority of cases. The current study presents 7 new patients, including 3 males and 4 females from 3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41811398
DOI: 10.1007/s00431-026-06801-0
PMCID: PMC12979316

Genes

LARP7

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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