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A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability.
Zhang, Ling; Xu, Ximing; Sun, Kaiqiang; Sun, Jingchuan; Wang, Yuan; Liu, Yang; Yang, Nan; Tao, Chengqiu; Cai, Baozhu; Shi, Guodong; Zhang, Feng; Shi, Jiangang.
Afiliación
  • Zhang L; Obstetrics and Gynecology Hospital, Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Fudan University, Shanghai, China.
  • Xu X; Department of orthopaedic Surgery, Spine Center, Changzheng Hospital, Second Military Medical Univerisity, Shanghai 20003, People's Republic of China.
  • Sun K; Department of orthopaedic Surgery, Spine Center, Changzheng Hospital, Second Military Medical Univerisity, Shanghai 20003, People's Republic of China.
  • Sun J; Department of orthopaedic Surgery, Spine Center, Changzheng Hospital, Second Military Medical Univerisity, Shanghai 20003, People's Republic of China.
  • Wang Y; Department of orthopaedic Surgery, Spine Center, Changzheng Hospital, Second Military Medical Univerisity, Shanghai 20003, People's Republic of China.
  • Liu Y; Department of orthopaedic Surgery, Spine Center, Changzheng Hospital, Second Military Medical Univerisity, Shanghai 20003, People's Republic of China.
  • Yang N; Obstetrics and Gynecology Hospital, Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Fudan University, Shanghai, China.
  • Tao C; Obstetrics and Gynecology Hospital, Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Fudan University, Shanghai, China.
  • Cai B; Obstetrics and Gynecology Hospital, Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Fudan University, Shanghai, China.
  • Shi G; Department of orthopaedic Surgery, Spine Center, Changzheng Hospital, Second Military Medical Univerisity, Shanghai 20003, People's Republic of China.
  • Zhang F; Obstetrics and Gynecology Hospital, Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Fudan University, Shanghai, China.
  • Shi J; Department of orthopaedic Surgery, Spine Center, Changzheng Hospital, Second Military Medical Univerisity, Shanghai 20003, People's Republic of China.
Am J Med Genet A ; 179(6): 936-939, 2019 06.
Article en En | MEDLINE | ID: mdl-30883014
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Disrafia Espinal / Proteínas Proto-Oncogénicas / Predisposición Genética a la Enfermedad / Proteínas de Unión al ADN / Estudios de Asociación Genética / Dominios Proteicos / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Disrafia Espinal / Proteínas Proto-Oncogénicas / Predisposición Genética a la Enfermedad / Proteínas de Unión al ADN / Estudios de Asociación Genética / Dominios Proteicos / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos