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RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction.
Jiang, Qian; Wang, Yang; Gao, Yang; Wang, Hui; Zhang, Zhen; Li, Qi; Xu, Shuhua; Cai, Wei; Li, Long.
Afiliación
  • Jiang Q; Department of Medical Genetics, Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, 100020, China.
  • Wang Y; Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai Institute for Pediatric Research, Shanghai, 200092, China.
  • Gao Y; Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.
  • Wang H; School of Life Science and Technology, ShanghaiTech University, Shanghai, 201210, China.
  • Zhang Z; Department of Medical Genetics, Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, 100020, China.
  • Li Q; Department of General Surgery, Capital Institute of Pediatrics Affiliated Children's Hospital, No. 2 Yabao Rd., Chaoyang District, Beijing, 100020, China.
  • Xu S; Department of General Surgery, Capital Institute of Pediatrics Affiliated Children's Hospital, No. 2 Yabao Rd., Chaoyang District, Beijing, 100020, China.
  • Cai W; Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.
  • Li L; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, 650223, China.
Hum Genet ; 140(5): 813-825, 2021 May.
Article en En | MEDLINE | ID: mdl-33433679
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Penetrancia / Isoformas de Proteínas / Proteínas Proto-Oncogénicas c-ret / Enfermedad de Hirschsprung / Intestinos Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Penetrancia / Isoformas de Proteínas / Proteínas Proto-Oncogénicas c-ret / Enfermedad de Hirschsprung / Intestinos Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: China