Your browser doesn't support javascript.
loading
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.
Nabais Sá, Maria J; Miller, Kerry A; McQuaid, Mary; Koelling, Nils; Wilkie, Andrew O M; Wurtele, Hugo; de Brouwer, Arjan P M; Oliveira, Jorge.
Afiliação
  • Nabais Sá MJ; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands maria.nabaissa@gmail.com.
  • Miller KA; Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.
  • McQuaid M; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Koelling N; Maisonneuve-Rosemont Hospital Research Center, Montréal, Québec, Canada.
  • Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Wurtele H; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • de Brouwer APM; Maisonneuve-Rosemont Hospital Research Center, Montréal, Québec, Canada.
  • Oliveira J; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
J Med Genet ; 59(8): 776-780, 2022 08.
Article em En | MEDLINE | ID: mdl-34353863
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Craniossinostoses / Microtia Congênita / Micrognatismo Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Craniossinostoses / Microtia Congênita / Micrognatismo Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article