ArticleAmerican journal of medical genetics. Part A2019
Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.
Article in American journal of medical genetics. Part A, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Enhanced P-TEFb activity compromises dentate gyrus neurogenesis in mice.The EMBO journal · 2026Article
- Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.European journal of pediatrics · 2026Article
- Alazami syndrome with a single LARP7 variant and concurrent osteo-oto-hepato-enteric syndrome: A case of complex genetic interplay.Radiology case reports · 2025Article
- Functional Characterization of Variants inHuman mutation · 2025Review
- Patient with Phenylketonuria and Intellectual Disability-Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome).International journal of environmental research and public health · 2022Article
- Review
- Developmental Support for Infants With Genetic Disorders.Pediatrics · 2020Review
- Compound Phenotype Due to Recessive Variants inGenes · 2020Article
- Alazami syndrome: the first case of papillary thyroid carcinoma.Journal of human genetics · 2020Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Alazami syndrome, caused by biallelic pathogenic variants in LARP7, is a recently-described rare genetic disorder, with 17 patients currently reported in the literature. We present a case of a male infant referred for genetics evaluation at 5 months of age, found at 17 months of age to have Alazami syndrome. He was promptly referred for developmental evaluation, where he was found to be higher functioning than prior reports of individuals with this condition. This demonstrates the neurodevelopmental phenotypic variability seen in rare genetic disorders; it also demonstrates the important role of developmental programs to measure and track outcomes and provide support for infants with genetic disorders that put them at risk of developmental disabilities.
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Registered trials
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