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Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report

Trichorhinophalangeal syndrome type I (TRPS I; MIM 190350) is a rare autosomal dominant disorder of congenital malformations due to variants of the gene TRPS1. We reported on an 11-year-old Chinese boy with TRPS I. He had typical clinical findings, including sparse hair, a bulbous nose, a long philt...

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Detalles Bibliográficos
Autores principales: Huang, Dan, Zhao, Jia, Xia, Fang-Ling, Zou, Chao-Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600025/
https://www.ncbi.nlm.nih.gov/pubmed/36291383
http://dx.doi.org/10.3390/children9101447