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Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
Powis, Z; Farwell Hagman, K D; Mroske, C; McWalter, K; Cohen, J S; Colombo, R; Serretti, A; Fatemi, A; David, K L; Reynolds, J; Immken, L; Nagakura, H; Cunniff, C M; Payne, K; Barbaro-Dieber, T; Gripp, K W; Baker, L; Stamper, T; Aleck, K A; Jordan, E S; Hersh, J H; Burton, J; Wentzensen, I M; Guillen Sacoto, M J; Willaert, R; Cho, M T; Petrik, I; Huether, R; Tang, S.
Afiliação
  • Powis Z; Division of Emerging Genetics Medicine, Ambry Genetics, Aliso Viejo, California.
  • Farwell Hagman KD; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California.
  • Mroske C; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California.
  • McWalter K; GeneDx, Gaithersburg, Maryland.
  • Cohen JS; Division of Neurogenetics, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland.
  • Colombo R; Faculty of Medicine, Institute of Clinical Biochemistry, Catholic University and Policlinico Agostino Gemelli, Rome, Italy.
  • Serretti A; Center for the Study of Rare Hereditary Disease, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.
  • Fatemi A; Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy.
  • David KL; Division of Neurogenetics, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland.
  • Reynolds J; Department of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland.
  • Immken L; Department of Medicine, Division of Genetics, New York Methodist Hospital, Brooklyn, New York.
  • Nagakura H; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
  • Cunniff CM; Department of Genetics Specially for Children Genetics, Austin, Texas.
  • Payne K; Department of Genetics Specially for Children Genetics, Austin, Texas.
  • Barbaro-Dieber T; Department of Pediatrics, Weill Cornell Medicine, New York, New York.
  • Gripp KW; Child Neurology, Riley Hospital for Children, Indianapolis, Indiana.
  • Baker L; Department of Genetics, Cook Children's Medical Center, Fort Worth, Texas.
  • Stamper T; Department of Genetics, Cook Children's Medical Center, Fort Worth, Texas.
  • Aleck KA; Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware.
  • Jordan ES; Department of Pediatrics, Section on Medical Genetics, Wake Forest Baptist Medical Center, Winston-Salem, North Carolina.
  • Hersh JH; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona.
  • Burton J; Weisskopf Center, University of Louisville Clinical Genetics Unit, Louisville, Kentucky.
  • Wentzensen IM; Weisskopf Center, University of Louisville Clinical Genetics Unit, Louisville, Kentucky.
  • Guillen Sacoto MJ; Department of Genetics, University of Illinois College of Medicine at Peoria, Peoria, Illinois.
  • Willaert R; GeneDx, Gaithersburg, Maryland.
  • Cho MT; GeneDx, Gaithersburg, Maryland.
  • Petrik I; GeneDx, Gaithersburg, Maryland.
  • Huether R; GeneDx, Gaithersburg, Maryland.
  • Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California.
Clin Genet ; 93(4): 752-761, 2018 04.
Article em En | MEDLINE | ID: mdl-28881385
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Transtornos Dismórficos Corporais / Deficiência Intelectual / Metiltransferases Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Clin Genet Ano de publicação: 2018 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: Deficiências do Desenvolvimento / Transtornos Dismórficos Corporais / Deficiência Intelectual / Metiltransferases Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Clin Genet Ano de publicação: 2018 Tipo de documento: Article