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Article

Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.

Clinical genetics - 1 Feb 2021

Sentchordi-Montané Lucia, Diaz-Gonzalez Francisca, Cátedra-Vallés Elena V, Heath Karen E

Abstract excerpt

Multiple synostosis syndrome (SYNS) is a heterogeneous group of genetic disorders mainly characterized by multiple joint synostosis due to variants in either NOG, GDF5, FGF9 or GDF6. To date, only two FGF9 variants have been associated with SYNS, characterized with hand and feet joint synostosis and fusion of the elbow and vertebral lumbar joints. Craniosynostosis was also observed in one family. Here, we report...

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PMID: 33140402
DOI: 10.1111/cge.13876

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