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Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review

BACKGROUND: The pathogenic mutation of short stature homeobox (SHOX) gene is one of the main genetic causes of short stature in children, with an incidence rate of 1/1000~1/2000 and the main clinical manifestations are short stature and (or) limb skeletal abnormalities. SHOX gene mutations are mostl...

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Detalles Bibliográficos
Autores principales:	Liu, Lifang, Li, Junsheng, Li, Jiarui, Hu, Hui, Liu, Jiao, Tang, Ping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2023
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578768/ https://www.ncbi.nlm.nih.gov/pubmed/37832088 http://dx.doi.org/10.1097/MD.0000000000035471

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