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A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
Li, Qifei; Dibus, Michal; Casey, Alicia; Yee, Christina S K; Vargas, Sara O; Luo, Shiyu; Rosen, Samantha M; Madden, Jill A; Genetti, Casie A; Brabek, Jan; Brownstein, Catherine A; Kazerounian, Shideh; Raby, Benjamin A; Schmitz-Abe, Klaus; Kennedy, John C; Fishman, Martha P; Mullen, Mary P; Taylor, Joan M; Rosel, Daniel; Agrawal, Pankaj B.
Afiliación
  • Li Q; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Dibus M; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Casey A; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Yee CSK; Department of Cell Biology, Charles University in Prague, Vinicná 7, Prague, Czech Republic.
  • Vargas SO; Department of Cell Biology, Biotechnology and Biomedicine Centre of the Academy of Sciences and Charles University (BIOCEV), Prumyslová 595, Vestec u Prahy, Czech Republic.
  • Luo S; Division of Pulmonary Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Rosen SM; Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Madden JA; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Genetti CA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Brabek J; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Brownstein CA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Kazerounian S; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Raby BA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Schmitz-Abe K; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Kennedy JC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Fishman MP; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Mullen MP; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Taylor JM; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
  • Rosel D; Department of Cell Biology, Charles University in Prague, Vinicná 7, Prague, Czech Republic.
  • Agrawal PB; Department of Cell Biology, Biotechnology and Biomedicine Centre of the Academy of Sciences and Charles University (BIOCEV), Prumyslová 595, Vestec u Prahy, Czech Republic.
PLoS Genet ; 17(7): e1009639, 2021 07.
Article en En | MEDLINE | ID: mdl-34232960
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Pulmonares Intersticiales / Proteínas Activadoras de GTPasa / Hipertensión Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Animals / Child / Female / Humans / Male Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Pulmonares Intersticiales / Proteínas Activadoras de GTPasa / Hipertensión Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Animals / Child / Female / Humans / Male Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos