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[Clinical features and genetic analysis of a child with STISS syndrome due to variant of PSMD12 gene].
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
A rare variant of USP9X associated with female-restricted X-linked syndromic intellectual disability.
Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.