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

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 report...

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Pubblicato in:BMC Med Genet
Autori principali: Xu, Dandan, Sun, Chengjun, Zhou, Zeyi, Wu, Bingbing, Yang, Lin, Chang, Zhuo, Zhang, Miaoying, Xi, Li, Cheng, Ruoqian, Ni, Jinwen, Luo, Feihong
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2018
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5956957/
https://ncbi.nlm.nih.gov/pubmed/29769040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0591-z
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