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

21 Mar 2023

Abstract excerpt

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 present study, we enrolled a Chinese family with short stature and advanced bone age across three generations....

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PMID: 37025453
DOI: 10.3389/fgene.2023.1101695

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