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Recessive CHRM5 variant as a potential cause of neurogenic bladder.
Schneider, Sophia; Schierbaum, Luca; Burger, Wessel A C; Seltzsam, Steve; Wang, Chunyan; Zheng, Bixia; Wu, Chen-Han Wilfred; Nakayama, Makiko; Connaughton, Dervla M; Mann, Nina; Shalaby, Mohamed A; Kari, Jameela A; ElDesoky, Sherif; Tasic, Velibor; Eid, Loai A; Shril, Shirlee; Thal, David M; Hildebrandt, Friedhelm.
Afiliação
  • Schneider S; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Schierbaum L; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Burger WAC; Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
  • Seltzsam S; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Wang C; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Zheng B; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Wu CW; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Nakayama M; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Connaughton DM; Department of Urology and Genetics and Genome Sciences, Case Western Reserve University Hospital, Cleveland, Ohio, USA.
  • Mann N; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Shalaby MA; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Kari JA; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • ElDesoky S; Department of Pediatrics, Pediatric Nephrology Unit, Pediatric Nephrology Center of Excellence, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
  • Tasic V; Department of Pediatrics, Pediatric Nephrology Unit, Pediatric Nephrology Center of Excellence, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
  • Eid LA; Department of Pediatrics, Pediatric Nephrology Unit, Pediatric Nephrology Center of Excellence, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
  • Shril S; Pediatric Nephrology, University Children's Hospital, University of Skopje Medical Faculty, Skopje, North Macedonia.
  • Thal DM; Pediatric Nephrology Department, Dubai Hospital, Dubai, UAE.
  • Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Am J Med Genet A ; 191(8): 2083-2091, 2023 08.
Article em En | MEDLINE | ID: mdl-37213061
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Urinário / Anormalidades Urogenitais / Refluxo Vesicoureteral / Bexiga Urinaria Neurogênica Limite: Animals / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Urinário / Anormalidades Urogenitais / Refluxo Vesicoureteral / Bexiga Urinaria Neurogênica Limite: Animals / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos