Associated Papers
Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature Review.
Ambrose A et al.
Human Mutation, 2025
40548259 (PubMed )
Supplement: 6490124.f1.zip › SupplementalTable4.xlsx › Sheet1
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Soengas-Gonda E et al.
Neuropediatrics, 2023
Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.
Wojcik MH et al.
American Journal of Medical Genetics. Part A, 2019
Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome.
Dateki S et al.
Human Genome Variation, 2018
Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
Hollink IH et al.
Journal of Human Genetics, 2016
Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability.
Ling TT et al.
American Journal of Medical Genetics. Part A, 2016
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