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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Detalles Bibliográficos
Autores principales: Xu, Dandan, Sun, Chengjun, Zhou, Zeyi, Wu, Bingbing, Yang, Lin, Chang, Zhuo, Zhang, Miaoying, Xi, Li, Cheng, Ruoqian, Ni, Jinwen, Luo, Feihong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956957/
https://www.ncbi.nlm.nih.gov/pubmed/29769040
http://dx.doi.org/10.1186/s12881-018-0591-z

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