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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… Click to show full 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 a novel missense variant c.566C > G, p.(Pro189Arg) in FGF9. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding. We also review the findings of cases reported previously and report on additional features not described previously.
Keywords:
associated previously;
novel heterozygous;
variant;
variant fgf9;
fgf9 associated;
heterozygous variant
Journal Title: Clinical Genetics
Year Published: 2020
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Journal Title: Clinical Genetics
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!