X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.

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Title: X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
Authors: Kolvenbach CM; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Felger T; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany., Schierbaum L; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany., Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA., Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA., Szczepańska M; Department of Pediatrics, Faculty of Medical Sciences, Medical University of Silesia in Katowice, Zabrze, Poland., Zaniew M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland., Adamczyk P; Department of Pediatrics, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Yilmaz Ö; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany., Lindenberg TT; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany., Thiele H; Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, Cologne, Germany., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Moog U; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Hilger AC; Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.; Research Center On Rare Kidney Diseases (RECORD), University Hospital Erlangen, Erlangen, Germany., Sullivan B; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Bartik L; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Gnyś P; Medeor Hospital, Department of Genetics, Lodz, Poland., Grote P; Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, Frankfurt am Main, Germany.; Georg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, Frankfurt am Main, Germany., Odermatt B; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany., Reutter HM; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany., Dworschak GC; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany gabriel.dworschak@uni-bonn.de.; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Department of Neuropediatrics, University Hospital Bonn, Bonn, Germany.
Source: Journal of medical genetics [J Med Genet] 2023 Jun; Vol. 60 (6), pp. 587-596. Date of Electronic Publication: 2022 Nov 15.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1468-6244
DOI:10.1136/jmg-2022-108738