Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
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DOI: 10.1038/s41436-020-00993-y
Abstract: Purpose We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata–Akhtar syndrome). Methods Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained… read more here.
Keywords: linked msl3; genotypic phenotypic; disorder; spectrum ... See more keywords