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Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
Mubungu, Gerrye; Makay, Prince; Boujemla, Bouchra; Yanda, Stephane; Posey, Jennifer E; Lupski, James R; Bours, Vincent; Lukusa, Prosper; Devriendt, Koenraad; Lumaka, Aimé.
Affiliation
  • Mubungu G; Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Congo.
  • Makay P; Institut National de Recherche Biomédicale, Kinshasa, Congo.
  • Boujemla B; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Congo.
  • Yanda S; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium.
  • Posey JE; Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Congo.
  • Lupski JR; Institut National de Recherche Biomédicale, Kinshasa, Congo.
  • Bours V; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Congo.
  • Lukusa P; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium.
  • Devriendt K; Laboratoire de Génétique Humaine, GIGA-Research Institute, University of Liège, Liège, Belgium.
  • Lumaka A; Unit of Medical Imaging, Department of Internal medicine, Faculty of Medicine, University of Kinshasa, Kinshasa, Congo.
Am J Med Genet A ; 185(3): 990-994, 2021 03.
Article in En | MEDLINE | ID: mdl-33372375
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Developmental Disabilities / Frameshift Mutation / DNA-Binding Proteins / Intellectual Disability Type of study: Prognostic_studies Limits: Child / Humans / Male Country/Region as subject: Africa Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Developmental Disabilities / Frameshift Mutation / DNA-Binding Proteins / Intellectual Disability Type of study: Prognostic_studies Limits: Child / Humans / Male Country/Region as subject: Africa Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Country of publication: