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Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
Revah-Politi, Anya; Ganapathi, Mythily; Bier, Louise; Cho, Megan T; Goldstein, David B; Hemati, Parisa; Iglesias, Alejandro; Juusola, Jane; Pappas, John; Petrovski, Slavé; Wilson, Ashley L; Aggarwal, Vimla S; Anyane-Yeboa, Kwame.
Afiliación
  • Revah-Politi A; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Ganapathi M; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York.
  • Bier L; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Cho MT; GeneDx, Gaithersburg, Maryland.
  • Goldstein DB; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Hemati P; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Iglesias A; Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center (CUMC), New York, New York.
  • Juusola J; GeneDx, Gaithersburg, Maryland.
  • Pappas J; Department of Pediatrics, New York University School of Medicine, New York, New York.
  • Petrovski S; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Wilson AL; Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, Australia.
  • Aggarwal VS; Department of Pediatrics, Children's Hospital of New York-Presbyterian, New York, New York.
  • Anyane-Yeboa K; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
Am J Med Genet A ; 173(12): 3158-3164, 2017 Dec.
Article en En | MEDLINE | ID: mdl-28941020
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Malformación de Arnold-Chiari / Discapacidades del Desarrollo / Factores de Transcripción NFI / Megalencefalia / Agenesia del Cuerpo Calloso / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Malformación de Arnold-Chiari / Discapacidades del Desarrollo / Factores de Transcripción NFI / Megalencefalia / Agenesia del Cuerpo Calloso / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article