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A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease

3 Dec 2020

Abstract excerpt

Heterozygous mutations in the ACAN gene have been reported in individuals with short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans. We report a family with a phenotypic constellation carrying a novel mutation in the ACAN gene. The proband was a 7-year-old Japanese girl with short stature. Her mother and maternal grandmother also had short stature and...

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PMID: 33298914
DOI: 10.1038/s41439-020-00132-8

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