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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839447 | PMC |
| http://dx.doi.org/10.1111/cge.13880 | DOI Listing |
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