LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
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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