Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort

Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort

Abstract This study aimed to explore the genotype-phenotype correlations in individuals with Genetic Skeletal Disorders (GSD), evaluate the efficacy of recombinant human Growth Hormone (rhGH) therapy. The retrospective analysis of the medical records of 80 pediatric patients with GSD diagnosed via w...

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Bibliographic Details
Main Authors: Yiyun Huang, Yan Peng, Chuan Li, Bobo Xie, Xianda Wei, Baoheng Gui, Juan Meng, Shaoke Chen, Xin Fan
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Subjects:
Bone diseases
Developmental
Genotype
Recombinant human growth hormone
Growth disorders
Online Access:https://doi.org/10.1038/s41598-025-07570-w
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https://doi.org/10.1038/s41598-025-07570-w

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