Your browser doesn't support javascript.
loading
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Poole, Rebecca L; Curry, Philippa D K; Marcinkute, Ruta; Brewer, Carole; Coman, David; Hobson, Emma; Johnson, Diana; Lynch, Sally Ann; Saggar, Anand; Searle, Claire; Scurr, Ingrid; Turnpenny, Peter D; Vasudevan, Pradeep; Tatton-Brown, Katrina.
Afiliação
  • Poole RL; NHS Education for Scotland South East Region, South East of Scotland Clinical Genetics Service, Edinburgh, UK.
  • Curry PDK; University College London, London, UK.
  • Marcinkute R; St George's University of London, London, UK.
  • Brewer C; Department of Clinical Genetics, Guys and St Thomas' NHS Foundation Trust, London, UK.
  • Coman D; Department of Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
  • Hobson E; Department of Metabolic Medicine, Queensland Children's Hospital, Queensland, Australia.
  • Johnson D; Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
  • Lynch SA; Department of Clinical Genetics, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Saggar A; Department of Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland.
  • Searle C; South West Thames Regional Genetics Department, St George's University Hospitals NHS Foundation Trust, London, UK.
  • Scurr I; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Turnpenny PD; Department of Clinical Genetics, University Hospital Bristol and Western NHS Foundation Trust, Bristol, UK.
  • Vasudevan P; Department of Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
  • Tatton-Brown K; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK.
Am J Med Genet A ; 185(8): 2445-2454, 2021 08.
Article em En | MEDLINE | ID: mdl-34032352
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Mutação de Sentido Incorreto / Alelos / Estudos de Associação Genética / Serina-Treonina Quinases TOR Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 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: Fenótipo / Mutação de Sentido Incorreto / Alelos / Estudos de Associação Genética / Serina-Treonina Quinases TOR Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article