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Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia.
Zeng, Binghui; Liao, Junkun; Zhang, Hanqing; Fu, Sha; Chen, Weixiong; Pan, Guokai; Li, Qunxing; Chen, Weiliang; Ferrone, Soldano; Wu, Binghao; Sun, Sheng; Hu, Jiali; Ahn, Michael Ho-Young; Lin, Zhaoyu; Yu, Dongsheng; Ou, Zhanpeng; Wang, Xinhui; Mo, Fengbo; Huang, Nasi; Hamilton, James A; Li, Jinsong; Fan, Song.
Afiliação
  • Zeng B; Department of Oral and Maxillofacial Surgery, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China.
  • Liao J; Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation of Sun Yat-Sen Memorial Hospital, Guangzhou, China.
  • Zhang H; Guanghua School of Stomatology, Hospital of Stomatology, Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-sen University, Guangzhou, China.
  • Fu S; Department of Oral and Maxillofacial Surgery, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China.
  • Chen W; Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation of Sun Yat-Sen Memorial Hospital, Guangzhou, China.
  • Pan G; Department of Oral and Maxillofacial Surgery, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China.
  • Li Q; Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation of Sun Yat-Sen Memorial Hospital, Guangzhou, China.
  • Chen W; Department of Pathology, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China.
  • Ferrone S; Department of Oral and Maxillofacial Surgery, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China.
  • Wu B; Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation of Sun Yat-Sen Memorial Hospital, Guangzhou, China.
  • Sun S; Department of Oral and Maxillofacial Surgery, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China.
  • Hu J; Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation of Sun Yat-Sen Memorial Hospital, Guangzhou, China.
  • Ahn MH; Department of Oral and Maxillofacial Surgery, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China.
  • Lin Z; Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation of Sun Yat-Sen Memorial Hospital, Guangzhou, China.
  • Yu D; Department of Oral and Maxillofacial Surgery, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China.
  • Ou Z; Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation of Sun Yat-Sen Memorial Hospital, Guangzhou, China.
  • Wang X; Division of Surgical Oncology, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
  • Mo F; Key Laboratory of Systems Biomedicine (Ministry of Education) and Collaborative Innovation Center of Systems Biomedicine of Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Huang N; Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, Massachusetts.
  • Hamilton JA; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University Cancer Center, Guangzhou, China.
  • Li J; Division of Surgical Oncology, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
  • Fan S; Department of Oral and Maxillofacial Surgery, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou, China.
Head Neck ; 41(1): 230-238, 2019 01.
Article em En | MEDLINE | ID: mdl-30554457
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Linhagem / Anoctaminas / Sequenciamento Completo do Genoma / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Head Neck Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Linhagem / Anoctaminas / Sequenciamento Completo do Genoma / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Head Neck Ano de publicação: 2019 Tipo de documento: Article