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Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
Boone, Philip M; Paterson, Scott; Mohajeri, Kiana; Zhu, Wenmiao; Genetti, Casie A; Tai, Derek J C; Nori, Neeharika; Agrawal, Pankaj B; Bacino, Carlos A; Bi, Weimin; Talkowski, Michael E; Hogan, Benjamin M; Rodan, Lance H.
Afiliação
  • Boone PM; Harvard Genetics Training Program, Boston, Massachusetts.
  • Paterson S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Mohajeri K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.
  • Zhu W; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
  • Genetti CA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts.
  • Tai DJC; Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.
  • Nori N; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.
  • Agrawal PB; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
  • Bacino CA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts.
  • Bi W; PhD Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts.
  • Talkowski ME; Baylor Genetics, Houston, Texas.
  • Hogan BM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Rodan LH; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
Am J Med Genet A ; 182(1): 189-194, 2020 01.
Article em En | MEDLINE | ID: mdl-31633297
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais / Predisposição Genética para Doença / Proteínas F-Box / Linfangiectasia Intestinal / Linfedema Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Child, preschool / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 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: Anormalidades Craniofaciais / Predisposição Genética para Doença / Proteínas F-Box / Linfangiectasia Intestinal / Linfedema Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Child, preschool / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article