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Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH

CONTEXT: Clinical genetic evaluation has been demonstrated as an important tool to elucidate the causes of growth disorders. Genetic defects of collagen formation (the collagenopathies) have been reported to be associated with short stature and skeletal dysplasias. Etiological diagnosis of skeletal...

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Detalles Bibliográficos
Autores principales: Chen, Meiping, Miao, Hui, Liang, Hanting, Ke, Xiaoan, Yang, Hongbo, Gong, Fengying, Wang, Linjie, Duan, Lian, Chen, Shi, Pan, Hui, Zhu, Huijuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8889571/
https://www.ncbi.nlm.nih.gov/pubmed/35250876
http://dx.doi.org/10.3389/fendo.2022.820001