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

• मुख्य लेखकों: Dandan Xu (लेखक), Chengjun Sun (लेखक), Zeyi Zhou (लेखक), Bingbing Wu (लेखक), Lin Yang (लेखक), Zhuo Chang (लेखक), Miaoying Zhang (लेखक), Li Xi (लेखक), Ruoqian Cheng (लेखक), Jinwen Ni (लेखक), Feihong Luo (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2018-05-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...