Research progress of short stature and advanced bone age, early-onset osteoarthritis and osteochondritis dissecans (SSOAOD) caused by acan gene mutation.

Abstract excerpt

Introduction: Heterozygous mutations in the ACAN gene are a key genetic cause of non-syndromic familial short stature. The associated disease spectrum includes short stature, advanced bone age, early-onset osteoarthritis, and osteochondritis dissecans (SSOAOD). The clinical phenotype is highly heterogeneous, ranging from isolated short stature to severe skeletal developmental abnormalities, reflecting a...

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