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