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Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene.
Shen, Yan-Ting; Ling, Yan; Lu, Zhi-Qiang; Li, Xiao-Mu; Bian, Hua; Yan, Hong-Mei; Xia, Ming-Feng; Chang, Xin-Xia; Jiang, Jing-Jing; Zhang, Jing; Gao, Xin.
Afiliação
  • Shen YT; Department of Endocrinology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
  • Ling Y; Institute of Chronic Metabolic Diseases of Fudan University, Shanghai 200032, China.
  • Lu ZQ; Department of Endocrinology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
  • Li XM; Institute of Chronic Metabolic Diseases of Fudan University, Shanghai 200032, China.
  • Bian H; Department of Endocrinology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
  • Yan HM; Institute of Chronic Metabolic Diseases of Fudan University, Shanghai 200032, China.
  • Xia MF; Department of Endocrinology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
  • Chang XX; Institute of Chronic Metabolic Diseases of Fudan University, Shanghai 200032, China.
  • Jiang JJ; Department of Endocrinology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
  • Zhang J; Institute of Chronic Metabolic Diseases of Fudan University, Shanghai 200032, China.
  • Gao X; Department of Endocrinology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
Yi Chuan ; 44(10): 975-982, 2022 Oct 20.
Article em En | MEDLINE | ID: mdl-36384733
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Bardet-Biedl Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Bardet-Biedl Idioma: En Ano de publicação: 2022 Tipo de documento: Article