Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children

• Main Authors: Dandan Xu (Author), Chengjun Sun (Author), Zeyi Zhou (Author), Bingbing Wu (Author), Lin Yang (Author), Zhuo Chang (Author), Miaoying Zhang (Author), Li Xi (Author), Ruoqian Cheng (Author), Jinwen Ni (Author), Feihong Luo (Author)
• Format: Book
• Published: BMC, 2018-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases, long-term longitudinal therapy data from China are still scarce. We...