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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Jain, Vani; Foo, Seow Hoong; Chooi, Stephen; Moss, Celia; Goodwin, Richard; Berland, Siren; Clarke, Angus J; Davies, Sally J; Corrin, Sian; Murch, Oliver; Doyle, Samantha; Graham, Gail E; Greenhalgh, Lynn; Holder, Susan E; Johnson, Diana; Kumar, Ajith; Ladda, Roger L; Sell, Susan; Begtrup, Amber; Lynch, Sally A; McCann, Emma; Østern, Rune; Pottinger, Caroline; Splitt, Miranda; Fry, Andrew E.
Afiliação
  • Jain V; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK. vani.jain@wales.nhs.uk.
  • Foo SH; Department of Dermatology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK.
  • Chooi S; Department of Dermatology, Gleneagles Hospital Medini, Nusajaya, 79250, Johor, Malaysia.
  • Moss C; School of Medicine, Cardiff University, Heath Park Campus, Cardiff, CF14 4YS, UK.
  • Goodwin R; Department of Dermatology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK.
  • Berland S; University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.
  • Clarke AJ; Department of Dermatology, Royal Gwent Hospital, Newport, NP20 2UB, UK.
  • Davies SJ; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway.
  • Corrin S; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.
  • Murch O; Division of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK.
  • Doyle S; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.
  • Graham GE; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.
  • Greenhalgh L; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.
  • Holder SE; Department of Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, D12 N512, Ireland.
  • Johnson D; Department of Clinical Genetics, The National Maternity Hospital, Holles Street, Dublin, D02 YH21, Ireland.
  • Kumar A; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, K1H 8L1, Canada.
  • Ladda RL; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, L8 7SS, UK.
  • Sell S; North West Thames Regional Genetic Service, Kennedy Galton Centre, Northwick Park Hospital, Harrow, HA1 3UJ, UK.
  • Begtrup A; Department of Clinical Genetics, Northern General Hospital, Sheffield, S5 7AU, UK.
  • Lynch SA; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, WC1N 3JH, UK.
  • McCann E; Department of Pediatrics, Division of Human Genetics, Penn State Health Children's Hospital, Hershey, Pennsylvania, 17033, USA.
  • Østern R; Department of Pediatrics, Division of Human Genetics, Penn State Health Children's Hospital, Hershey, Pennsylvania, 17033, USA.
  • Pottinger C; GeneDx, Gaithersburg, Maryland, 20877, USA.
  • Splitt M; Department of Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, D12 N512, Ireland.
  • Fry AE; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, L8 7SS, UK.
Eur J Hum Genet ; 31(12): 1421-1429, 2023 12.
Article em En | MEDLINE | ID: mdl-37704779
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Ligada ao Cromossomo X / Hipogonadismo / Deficiência Intelectual Tipo de estudo: Guideline Limite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Ligada ao Cromossomo X / Hipogonadismo / Deficiência Intelectual Tipo de estudo: Guideline Limite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Reino Unido