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De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
Mullegama, Sureni V; Klein, Steven D; Mulatinho, Milene V; Senaratne, Tharanga Niroshini; Singh, Kathryn; Nguyen, Dzung C; Gallant, Natalie M; Strom, Samuel P; Ghahremani, Shahnaz; Rao, Nagesh P; Martinez-Agosto, Julian A.
  • Mullegama SV; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, California.
  • Klein SD; UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, California.
  • Mulatinho MV; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California.
  • Senaratne TN; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, California.
  • Singh K; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, California.
  • Nguyen DC; Miller Children's and Women's Hospital Long Beach, Long Beach, California.
  • Gallant NM; UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, California.
  • Strom SP; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California.
  • Ghahremani S; Division of Genetic and Genomic Medicine, University of California, Irvine, California.
  • Rao NP; Miller Children's and Women's Hospital Long Beach, Long Beach, California.
  • Martinez-Agosto JA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, California.
Am J Med Genet A ; 173(5): 1319-1327, 2017 May.
Article en En | MEDLINE | ID: mdl-28296084
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Discapacidades del Desarrollo / Antígenos Nucleares / Microcefalia Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans Idioma: En Año: 2017 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Discapacidades del Desarrollo / Antígenos Nucleares / Microcefalia Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans Idioma: En Año: 2017 Tipo del documento: Article