Disease: Temtamy preaxial brachydactyly syndrome
- A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS
- A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum
- A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies
- A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family
- A rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisation
- Catel-Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome?
- Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus
- Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling