Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three ‐generation family with Crouzon syndrome carrying a mutant c.799T > C FGFR2

ConclusionCrouzon syndrome in this three ‐generation family was caused by c.799T>CFGFR2, and the patient showed a different phenotypic appearance from other Crouzon patients with c.799T>CFGFR2.

Source: Molecular Genetics & Genomic Medicine - July 17, 2019 Category: Genetics & Stem Cells Authors: Meina Lin, Yongping Lu, Yu Sui, Ning Zhao, Ying Jin, Dongxu Yi, Miao Jiang Tags: CLINICAL REPORT Source Type: research