Qi Huang Cheng Jiang Jiazhong Sun Junli Xue Victor Wei Zhang
10.3389/fped.2022.990230
Front Pediatr
2022 Nov 18;10:990230.
trps1 gene deletion mutation short stature sparse hair tricho-rhino-phalangeal syndrome
CC BY
https://pubmed.ncbi.nlm.nih.gov/36467473/
Case Reports
PMC9716017
36467473
Case report: A novel mutation in TRPS 1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge
2022