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Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
Lin, Angela E; Alali, Abdulrazak; Starr, Lois J; Shah, Nidhi; Beavis, Anna; Pereira, Elaine M; Lindsay, Mark E; Klugman, Susan.
Afiliação
  • Lin AE; Medical Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts.
  • Alali A; Division of Pediatric Genetics, Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.
  • Starr LJ; Division of Genetics, Department of Pediatrics, Akron Children's Hospital, Akron, Ohio.
  • Shah N; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska.
  • Beavis A; Harvard Medical School Genetics Training Program, Boston, Massachusetts.
  • Pereira EM; Department of Gynecology and Obstetrics, Johns Hopkins University, Baltimore, Maryland.
  • Lindsay ME; Division of Pediatric Genetics, Department of Pediatrics, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.
  • Klugman S; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York.
Am J Med Genet A ; 182(2): 328-337, 2020 02.
Article em En | MEDLINE | ID: mdl-31837202
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deformidades Congênitas da Mão / Neoplasias do Endométrio / Criptorquidismo / Proteína Smad4 / Transtornos do Crescimento / Deficiência Intelectual / Neoplasias Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deformidades Congênitas da Mão / Neoplasias do Endométrio / Criptorquidismo / Proteína Smad4 / Transtornos do Crescimento / Deficiência Intelectual / Neoplasias Idioma: En Ano de publicação: 2020 Tipo de documento: Article