LAUSR

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families

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1 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