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Retinoic acid receptor beta variant-related colonic hypoganglionosis.
Foster, Katharine J; Zhang, Stephanie Q; Braddock, Stephen R; Torti, Erin; Chikarmane, Rashmi; Sotelo-Avila, Cirilo; Greenspon, Jose.
Affiliation
  • Foster KJ; Department of Surgery, Division of Pediatrics Saint Louis University School of Medicine, Saint Louis, Missouri.
  • Zhang SQ; Department of Surgery, Division of Pediatrics Saint Louis University School of Medicine, Saint Louis, Missouri.
  • Braddock SR; Department of Pediatrics, Division of Medical Genetics, Saint Louis University School of Medicine, Saint Louis, Missouri.
  • Torti E; Department of Pediatrics, Division of Medical Genetics, Saint Louis University School of Medicine, Saint Louis, Missouri.
  • Chikarmane R; Clinical Genomics Program, GeneDx, Gaithersburg, Maryland.
  • Sotelo-Avila C; Department of Pathology, Saint Louis University School of Medicine, Saint Louis, Missouri.
  • Greenspon J; Department of Surgery, Division of Pediatrics, Saint Louis University School of Medicine, Saint Louis, Missouri.
Am J Med Genet A ; 179(5): 817-821, 2019 05.
Article in En | MEDLINE | ID: mdl-30790422
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Receptors, Retinoic Acid / Colonic Diseases, Functional / Constipation / Genetic Predisposition to Disease Type of study: Diagnostic_studies Limits: Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Receptors, Retinoic Acid / Colonic Diseases, Functional / Constipation / Genetic Predisposition to Disease Type of study: Diagnostic_studies Limits: Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Country of publication: Estados Unidos