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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2023
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Materias: | |
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 |