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A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.
Zheng, Bixia; Wang, Chunyan; Seltzsam, Steve; Schneider, Sophia; Schierbaum, Luca; Wu, Wilfred; Dai, Rufeng; Connaughton, Dervla M; Nakayama, Makiko; Mann, Nina; Bauer, Stuart B; Awad, Hazem S; Eid, Loai A; Tasic, Velibor; Shril, Shirlee; Hildebrandt, Friedhelm.
Afiliação
  • Zheng B; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Wang C; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.
  • Seltzsam S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Schneider S; Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China.
  • Schierbaum L; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Wu W; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Dai R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Connaughton DM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Nakayama M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Mann N; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Bauer SB; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Awad HS; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Eid LA; Department of Urology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Tasic V; Pediatric Nephrology Department, Dubai Hospital, Dubai, United Arab Emirates.
  • Shril S; Pediatric Nephrology Department, Dubai Hospital, Dubai, United Arab Emirates.
  • Hildebrandt F; Medical Faculty Skopje, University Children's Hospital, Skopje, Macedonia.
Am J Med Genet A ; 188(1): 310-313, 2022 01.
Article em En | MEDLINE | ID: mdl-34525250
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Urinário / Anormalidades Urogenitais / Refluxo Vesicoureteral Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Urinário / Anormalidades Urogenitais / Refluxo Vesicoureteral Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Ano de publicação: 2022 Tipo de documento: Article