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Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.
Lorenzo, Melissa; Stolte-Dijkstra, Irene; van Rheenen, Patrick; Smith, Ronald Garth; Scheers, Tom; Walia, Jagdeep S.
Affiliation
  • Lorenzo M; Faculty of Medicine, Queen's University, Kingston, Ontario, Canada.
  • Stolte-Dijkstra I; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • van Rheenen P; Department of Pediatric Gastroenterology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Smith RG; Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.
  • Scheers T; Department of Child and Adolescent Psychiatry, University of Groningen, Groningen, The Netherlands.
  • Walia JS; Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.
Am J Med Genet A ; 176(6): 1455-1462, 2018 06.
Article in En | MEDLINE | ID: mdl-29693785

Full text: 1 Database: MEDLINE Main subject: Developmental Disabilities / Mutation / Nerve Tissue Proteins Type of study: Etiology_studies / Prognostic_studies Limits: Child / Child, preschool / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Canada

Full text: 1 Database: MEDLINE Main subject: Developmental Disabilities / Mutation / Nerve Tissue Proteins Type of study: Etiology_studies / Prognostic_studies Limits: Child / Child, preschool / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Canada