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Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations.
O'Connell, Amy E; Zhou, Fanny; Shah, Manasvi S; Murphy, Quinn; Rickner, Hannah; Kelsen, Judith; Boyle, John; Doyle, Jefferson J; Gangwani, Bharti; Thiagarajah, Jay R; Kamin, Daniel S; Goldsmith, Jeffrey D; Richmond, Camilla; Breault, David T; Agrawal, Pankaj B.
Afiliación
  • O'Connell AE; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA. Electronic address: amy.oconnell@childrens.harvard.edu.
  • Zhou F; Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Shah MS; Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Murphy Q; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
  • Rickner H; Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Kelsen J; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Boyle J; Division of Gastroenterology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Doyle JJ; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Gangwani B; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Thiagarajah JR; Division of Gastroenterology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
  • Kamin DS; Division of Gastroenterology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
  • Goldsmith JD; Department of Pathology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Richmond C; Division of Gastroenterology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
  • Breault DT; Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Harvard Stem Cell Institute, Cambridge, MA 02138, USA.
  • Agrawal PB; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard M
Am J Hum Genet ; 103(1): 131-137, 2018 07 05.
Article en En | MEDLINE | ID: mdl-29909964
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Glicoproteínas / Codón sin Sentido / Diarrea / Proteínas Wnt Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Glicoproteínas / Codón sin Sentido / Diarrea / Proteínas Wnt Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article