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A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?
Geoghegan, Sarah; King, Graham; Henchliffe, Jennifer; Ramsden, Simon C; Barry, Raymond J; Green, Andrew J; O'Connell, Susan M.
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  • Geoghegan S; Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland.
  • King G; Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland.
  • Henchliffe J; St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester Centre for Genomic Medicine, Manchester, United Kingdom.
  • Ramsden SC; St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester Centre for Genomic Medicine, Manchester, United Kingdom.
  • Barry RJ; Department of Paediatrics and Child Health, Mercy University Hospital, Cork, Ireland.
  • Green AJ; Department of Clinical Genetics, Our Lady's Hospital Crumlin, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
  • O'Connell SM; Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland.
Am J Med Genet A ; 176(7): 1637-1640, 2018 07.
Article en En | MEDLINE | ID: mdl-29704308
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Proteínas Proto-Oncogénicas B-raf / Insuficiencia de Crecimiento / Gónadas / Cardiopatías Congénitas / Mosaicismo / Mutación Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Proteínas Proto-Oncogénicas B-raf / Insuficiencia de Crecimiento / Gónadas / Cardiopatías Congénitas / Mosaicismo / Mutación Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article