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Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
Syryn, Hannes; Hoorens, Anne; Grammatikopoulos, Tassos; Deheragoda, Maesha; Symoens, Sofie; Vande Velde, Saskia; Van Biervliet, Stephanie; Van Winckel, Myriam; Verloo, Patrick; Callewaert, Bert; De Bruyne, Ruth.
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  • Syryn H; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Hoorens A; Department of Pathology, Ghent University Hospital, Ghent, Belgium.
  • Grammatikopoulos T; Paediatric Liver, Gastroenterology & Nutrition Centre and MowatLabs, King's College Hospital NHS Foundation Trust, London, UK.
  • Deheragoda M; Institute of Liver Studies, King's College Hospital NHS Trust, London, UK.
  • Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Vande Velde S; Department of Paediatric Gastroenterology and Hepatology, Ghent University Hospital, Ghent, Belgium.
  • Van Biervliet S; Department of Paediatric Gastroenterology and Hepatology, Ghent University Hospital, Ghent, Belgium.
  • Van Winckel M; Department of Paediatric Gastroenterology and Hepatology, Ghent University Hospital, Ghent, Belgium.
  • Verloo P; Department of Paediatric Neurology, Ghent University Hospital, Ghent, Belgium.
  • Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • De Bruyne R; Department of Paediatric Gastroenterology and Hepatology, Ghent University Hospital, Ghent, Belgium.
Clin Genet ; 100(4): 447-452, 2021 10.
Article en En | MEDLINE | ID: mdl-34155636
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Colangitis Esclerosante / Discapacidades del Desarrollo / Proteínas Asociadas a Microtúbulos / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Colangitis Esclerosante / Discapacidades del Desarrollo / Proteínas Asociadas a Microtúbulos / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article