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Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.
Webb, Bryn D; Metikala, Sanjeeva; Wheeler, Patricia G; Sherpa, Mingma D; Houten, Sander M; Horb, Marko E; Schadt, Eric E.
Afiliação
  • Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Metikala S; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Wheeler PG; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Sherpa MD; Bell Center for Regenerative Biology and Tissue Engineering and National Xenopus Resource, Marine Biological Laboratory, Woods Hole, Massachusetts.
  • Houten SM; Department of Pediatrics, Division of Genetics, Nemours Children's Clinic, Orlando, Florida.
  • Horb ME; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Schadt EE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Hum Mutat ; 38(4): 373-377, 2017 04.
Article em En | MEDLINE | ID: mdl-28054444
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anus Imperfurado / Polegar / Anormalidades Múltiplas / Proteínas Nucleares / Códon sem Sentido / Proteínas Adaptadoras de Transdução de Sinal / Perda Auditiva Neurossensorial Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anus Imperfurado / Polegar / Anormalidades Múltiplas / Proteínas Nucleares / Códon sem Sentido / Proteínas Adaptadoras de Transdução de Sinal / Perda Auditiva Neurossensorial Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article