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Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children.
Xu, Dandan; Sun, Chengjun; Zhou, Zeyi; Wu, Bingbing; Yang, Lin; Chang, Zhuo; Zhang, Miaoying; Xi, Li; Cheng, Ruoqian; Ni, Jinwen; Luo, Feihong.
Afiliación
  • Xu D; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, 399 Wan Yuan Road, Minhang District, Shanghai, 201102, China.
  • Sun C; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, 399 Wan Yuan Road, Minhang District, Shanghai, 201102, China.
  • Zhou Z; College of Letters and Science, University of California, Berkeley, USA.
  • Wu B; Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Yang L; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, 399 Wan Yuan Road, Minhang District, Shanghai, 201102, China.
  • Chang Z; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, 399 Wan Yuan Road, Minhang District, Shanghai, 201102, China.
  • Zhang M; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, 399 Wan Yuan Road, Minhang District, Shanghai, 201102, China.
  • Xi L; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, 399 Wan Yuan Road, Minhang District, Shanghai, 201102, China.
  • Cheng R; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, 399 Wan Yuan Road, Minhang District, Shanghai, 201102, China.
  • Ni J; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, 399 Wan Yuan Road, Minhang District, Shanghai, 201102, China.
  • Luo F; Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, 399 Wan Yuan Road, Minhang District, Shanghai, 201102, China. luofh@fudan.edu.cn.
BMC Med Genet ; 19(1): 79, 2018 05 16.
Article en En | MEDLINE | ID: mdl-29769040
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hormona del Crecimiento / Sustitución de Aminoácidos / Pueblo Asiatico / Enanismo / Agrecanos Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hormona del Crecimiento / Sustitución de Aminoácidos / Pueblo Asiatico / Enanismo / Agrecanos Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido