A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
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DOI: 10.1111/cge.13880
Abstract: Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report… read more here.
Keywords: associated previously; novel heterozygous; variant; variant fgf9 ... See more keywords