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Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with short stature and advanced bone age

Short stature (OMIM: 165800) is a common pediatric disorder. Any abnormality in the cartilage formation of the growth plate can cause short stature. Aggrecan, encoded by ACAN, is an important component of the extracellular matrix. Mutations in ACAN have been reported to cause short stature. In the p...

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Detalles Bibliográficos
Autores principales:	Huang, Hao, Jin, Jieyuan, Xiang, Rong, Wang, Xia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10070732/ https://www.ncbi.nlm.nih.gov/pubmed/37025453 http://dx.doi.org/10.3389/fgene.2023.1101695

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