Your browser doesn't support javascript.
loading
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
Rosti, Rasim O; Dikoglu, Esra; Zaki, Maha S; Abdel-Salam, Ghada; Makhseed, Nawal; Sese, Jordan C; Musaev, Damir; Rosti, Basak; Harbert, Mary J; Jones, Marilyn C; Vaux, Keith K; Gleeson, Joseph G.
Afiliação
  • Rosti RO; Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York City, New York.
  • Dikoglu E; Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York City, New York.
  • Zaki MS; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
  • Abdel-Salam G; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
  • Makhseed N; Pediatric Department, Al-Jahra Hospital, Jahra City, Kuwait.
  • Sese JC; Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York City, New York.
  • Musaev D; Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York City, New York.
  • Rosti B; Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York City, New York.
  • Harbert MJ; Rady Children's Hospital, Department of Pediatrics, Sharp Mary Birch Hospital, University of California San Diego School of Medicine, San Diego, California.
  • Jones MC; Rady Children's Hospital, Department of Pediatrics, Sharp Mary Birch Hospital, University of California San Diego School of Medicine, San Diego, California.
  • Vaux KK; Division of Medical Genetics, Department of Medicine, University of California San Diego School of Medicine, San Diego, California.
  • Gleeson JG; Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York City, New York.
Am J Med Genet A ; 170A(4): 992-8, 2016 Apr.
Article em En | MEDLINE | ID: mdl-27001912
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Mutação de Sentido Incorreto / Hérnia Hiatal / Homozigoto / Microcefalia / Nefrose Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Mutação de Sentido Incorreto / Hérnia Hiatal / Homozigoto / Microcefalia / Nefrose Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article