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A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
Kolvenbach, Caroline M; Zheng, Bixia; Merz, Lea M; Mertens, Nils D; Mansour, Bshara; Wang, Chunyan; Seltzsam, Steve; Schneider, Sophia; Schierbaum, Luca; Pantel, Dalia; Chen, Jing; van der Ven, Amelie T; Bello, Jibril O; Shril, Shirlee; Hildebrandt, Friedhelm.
Afiliação
  • Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Zheng B; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.
  • Merz LM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Mertens ND; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.
  • Mansour B; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Wang C; Department of Pediatrics, University Hospital Leipzig, Leipzig, Germany.
  • Seltzsam S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Schneider S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Schierbaum L; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Pantel D; Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Chen J; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • van der Ven AT; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Bello JO; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Shril S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Hildebrandt F; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Am J Med Genet A ; 191(5): 1355-1359, 2023 05.
Article em En | MEDLINE | ID: mdl-36694287
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sistema Urinário / Anormalidades Urogenitais / Refluxo Vesicoureteral Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sistema Urinário / Anormalidades Urogenitais / Refluxo Vesicoureteral Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article