A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations.

CONCLUSION: This SOX9 mutation (p.M469V) may contribute to CVM without other systematic deformity, which provided important implications and better understanding of phenotypic variability in SOX9-related skeletal deformities.
PMID: 31549955 [PubMed - as supplied by publisher]

Source: Current Gene Therapy - September 23, 2019 Category: Genetics & Stem Cells Authors: Wu N, Wang L, Hu J, Zhao S, Liu B, Li Y, Du H, Zhang Y, Li X, Yan Z, Wang S, Wang Y, Zhang J, Wu Z, Qiu G Tags: Curr Gene Ther Source Type: research