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Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies
Authors:Markus Draaken  Sadaf S. Mughal  Greta Große  Alina C. Hilger  Gabriel C. Dworschak  Thomas M. Boemers  Ekkehart Jenetzky  Nadine Zwink  Martin Lacher  Dominik Schmidt  Eberhard Schmiedeke  Sabine Grasshoff‐Derr  Stefanie Märzheuser  Stefan Holland‐Cunz  Mattias Schäfer  Enrika Bartels  Kathleen Keppler  Markus Palta  Johannes Leonhardt  Christina Kujath  Anke Rißmann  Markus M. Nöthen  Heiko Reutter  Michael Ludwig
Affiliation:1. Institute of Human Genetics, University of Bonn, Bonn, Germany;2. Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany;3. Department of Pediatric Surgery and Pediatric Urology, Children's Hospital Cologne, Cologne, Germany;4. Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany;5. Department of Child and Adolescent Psychiatry and Psychotherapy, Johannes‐Gutenberg University, Mainz, Germany;6. Center of Pediatric Surgery Hannover, Hannover Medical School, Hannover, Germany;7. Department of Pediatric Surgery, Campus Virchow Clinic, Charité University Hospital Berlin, Berlin, Germany;8. Department of Pediatric Surgery and Urology, Center for Child and Adolescent Health, Hospital Bremen‐Mitte, Bremen, Germany;9. Department of Pediatric Surgery, University Hospital Würzburg, Würzburg, Germany;10. Department of Pediatric Surgery, University of Heidelberg, Heidelberg, Germany;11. Department of Pediatric Surgery, Cnopf'sche Kinderklinik, Nuremberg, Germany;12. Department of Pediatric Surgery, Evangelisches Krankenhaus Hamm, Hamm, Germany;13. Department of Pediatric Surgery, St. Bernward‐Krankenhaus, Hildesheim, Germany;14. Department of Pediatric Surgery, University Hospital Greifswald, Germany;15. Monitoring of Congenital Malformations Saxony‐Anhalt, University of Magdeburg, Magdeburg, Germany;16. Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany;17. Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany
Abstract:
Keywords:anorectal malformation  cryptorchidism  FGF8  fibroblast growth factor  VACTERL/VATER association  hypergonadotropic hypogonadism  Kallmann syndrome
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