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Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Mohajeri, Arezoo; Vaseghi-Shanjani, Maryam; Rosenfeld, Jill A; Yang, Gui Xiang; Lu, Henry; Sharma, Mehul; Lin, Susan; Salman, Areesha; Waqas, Meriam; Sababi Azamian, Mahshid; Worley, Kim C; Del Bel, Kate L; Kozak, Frederick K; Rahmanian, Ronak; Biggs, Catherine M; Hildebrand, Kyla J; Lalani, Seema R; Nicholas, Sarah K; Scott, Daryl A; Mostafavi, Sara; van Karnebeek, Clara; Henkelman, Erika; Halparin, Jessica; Yang, Connie L; Armstrong, Linlea; Turvey, Stuart E; Lehman, Anna.
  • Mohajeri A; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Vaseghi-Shanjani M; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Yang GX; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Lu H; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Sharma M; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Lin S; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Salman A; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Waqas M; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Sababi Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Del Bel KL; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Kozak FK; Department of Surgery, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Rahmanian R; Department of Surgery, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Biggs CM; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Hildebrand KJ; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Nicholas SK; Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA.
  • Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Mostafavi S; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
  • van Karnebeek C; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Henkelman E; Department of Surgery, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Halparin J; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Yang CL; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Armstrong L; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Lehman A; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada sturvey@bcchr.ca anna.lehman@vch.ca.
J Med Genet ; 60(11): 1092-1104, 2023 Nov.
Article en En | MEDLINE | ID: mdl-37316189
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Anomalías Craneofaciales / Factor de Transcripción Ikaros / Pérdida Auditiva Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Anomalías Craneofaciales / Factor de Transcripción Ikaros / Pérdida Auditiva Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article