Disease: Camptodactyly- tall stature- and hearing loss syndrome
- <em>Fgfr3</em> mutation disrupts chondrogenesis and bone ossification in zebrafish model mimicking CATSHL syndrome partially via enhanced Wnt/β-catenin signaling
- A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly
- A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
- A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome
- CATSHL syndrome, a new family and phenotypic expansion
- Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood
- Fgfr3 mutation disrupts chondrogenesis and bone ossification in zebrafish model mimicking CATSHL syndrome partially via enhanced Wnt/beta-catenin signaling
- The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review