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
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
Select a paper to view details