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An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.
Rawlins, Lettie E; Jones, Hannah; Wenger, Olivia; Aye, Myat; Fasham, James; Harlalka, Gaurav V; Chioza, Barry A; Miron, Alexander; Ellard, Sian; Wakeling, Matthew; Crosby, Andrew H; Baple, Emma L.
Afiliación
  • Rawlins LE; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Jones H; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK.
  • Wenger O; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Aye M; New Leaf Center, Clinic for Special Children, PO Box 336, 15988B East Chestnut Street, Mount Eaton, OH, 44659, USA.
  • Fasham J; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Harlalka GV; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Chioza BA; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED, UK.
  • Miron A; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Ellard S; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Wakeling M; PlexSeq Diagnostics, 11000 Cedar Avenue, Suite 290, Cleveland, OH, 44106, USA.
  • Crosby AH; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Baple EL; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
Eur J Hum Genet ; 27(4): 657-662, 2019 04.
Article en En | MEDLINE | ID: mdl-30622327
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Ciclo Celular / Hidranencefalia / Riñón / Enfermedades Renales Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Ciclo Celular / Hidranencefalia / Riñón / Enfermedades Renales Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido