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A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Clin Genet |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Blackwell Publishing Ltd
2021
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7839447/ https://ncbi.nlm.nih.gov/pubmed/33174625 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13880 |
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