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Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.
Rethanavelu, Kavitha; Fung, Jasmine L F; Chau, Jeffrey F T; Pei, Steven L C; Chung, Claudia C Y; Mak, Christopher C Y; Luk, Ho M; Chung, Brian H Y.
Afiliação
  • Rethanavelu K; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Fung JLF; Clinical Genetic Services, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Chau JFT; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Pei SLC; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Chung CCY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Mak CCY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Luk HM; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Chung BHY; Department of Health, Clinical Genetic Service, Hong Kong, China.
Am J Med Genet A ; 182(2): 279-288, 2020 02.
Article em En | MEDLINE | ID: mdl-31755649

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ciclo Celular / Predisposição Genética para Doença / Síndrome de Alstrom / Mutação Tipo de estudo: Guideline / Prognostic_studies / Qualitative_research Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ciclo Celular / Predisposição Genética para Doença / Síndrome de Alstrom / Mutação Tipo de estudo: Guideline / Prognostic_studies / Qualitative_research Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China