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First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.
Wang, Yao; Yu, Dong; Wei, Wei; Zheng, Hao; Liu, Ming-Hua; Ma, Long; Qin, Li-Na; Wang, Neng-Zhuang; Li, Jia-Xi; Wang, Jin-Jiang; Bi, Xin-Ling; Yan, Hong-Li.
Afiliación
  • Wang Y; Center for Reproductive Medicine, Changhai Hospital, Naval Medical University, Shanghai, China.
  • Yu D; Institute of Translational Medicine, Naval Medical University, Shanghai, China.
  • Wei W; Clinical Research Center, Changhai Hospital, Naval Medical University, Shanghai, China.
  • Zheng H; Center for Reproductive Medicine, Changhai Hospital, Naval Medical University, Shanghai, China.
  • Liu MH; Center for Reproductive Medicine, Changhai Hospital, Naval Medical University, Shanghai, China.
  • Ma L; Center for Reproductive Medicine, Changhai Hospital, Naval Medical University, Shanghai, China.
  • Qin LN; Center for Reproductive Medicine, Changhai Hospital, Naval Medical University, Shanghai, China.
  • Wang NZ; Center for Reproductive Medicine, Changhai Hospital, Naval Medical University, Shanghai, China.
  • Li JX; Department of Oncology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Wang JJ; Department of Oncology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Bi XL; Department of Dermatology, Changhai Hospital, Naval Medical University, Shanghai, China. bixinling@163.com.
  • Yan HL; Center for Reproductive Medicine, Changhai Hospital, Naval Medical University, Shanghai, China. hongliyan@smmu.edu.cn.
BMC Med Genomics ; 15(1): 136, 2022 06 18.
Article en En | MEDLINE | ID: mdl-35717189
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epidermólisis Ampollosa de la Unión Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Child, preschool / Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2022 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: Epidermólisis Ampollosa de la Unión Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Child, preschool / Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido