LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.07.003
Abstract: Alazami syndrome (AS) (MIM# 615071) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients… read more here.
Keywords: larp7 variants; delineation; alazami syndrome; variants delineation ... See more keywords
Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Human Genome Variation"
DOI: 10.1038/hgv.2018.14
Abstract: The LARP7 gene encodes a chaperone protein of the noncoding RNA 75 K, and mutations in this gene have been identified in patients with Alazami syndrome. Herein, we report another Japanese patient with Alazami syndrome and… read more here.
Keywords: alazami syndrome; patient alazami; novel compound; larp7 gene ... See more keywords
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families
Sign Up to like & getrecommendations! Published in 2022 at "Neuropediatrics"
DOI: 10.1055/a-1947-8411
Abstract: Abstract Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features.… read more here.
Keywords: spanish families; two unrelated; phenotypic spectrum; unrelated spanish ... See more keywords