HeterozygousFGF8mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies-Reference-Cited by-同舟云学术

HeterozygousFGF8mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies

Published:2014-08-08 Issue:10 Volume:100 Page:750-759
ISSN:1542-0752
Container-title:Birth Defects Research Part A: Clinical and Molecular Teratology
language:en
Short-container-title:Birth Defects Research Part A: Clinical and Molecular Teratology

Author:

Zeidler Claudia¹,Woelfle Joachim²,Draaken Markus³⁴,Mughal Sadaf S.³,Große Greta³,Hilger Alina C.³,Dworschak Gabriel C.³,Boemers Thomas M.⁵,Jenetzky Ekkehart⁶⁷,Zwink Nadine⁶,Lacher Martin⁸,Schmidt Dominik³⁹,Schmiedeke Eberhard¹⁰,Grasshoff-Derr Sabine¹¹,Märzheuser Stefanie⁹,Holland-Cunz Stefan¹²,Schäfer Mattias¹³,Bartels Enrika³,Keppler Kathleen³,Palta Markus¹⁴,Leonhardt Johannes¹⁵,Kujath Christina¹⁶,Rißmann Anke¹⁷,Nöthen Markus M.³⁴,Reutter Heiko³¹⁸,Ludwig Michael¹

Affiliation:

1. Department of Clinical Chemistry and Clinical Pharmacology; University of Bonn; Bonn Germany

2. Pediatric Endocrinology Division; Children's Hospital, University of Bonn; Bonn Germany

3. Institute of Human Genetics, University of Bonn; Bonn Germany

4. Department of Genomics; Life & Brain Center, University of Bonn; Bonn Germany

5. Department of Pediatric Surgery and Pediatric Urology; Children's Hospital Cologne; Cologne Germany

6. Division of Clinical Epidemiology and Aging Research; German Cancer Research Center; Heidelberg Germany

7. Department of Child and Adolescent Psychiatry and Psychotherapy; Johannes-Gutenberg University; Mainz Germany

8. Center of Pediatric Surgery Hannover, Hannover Medical School; Hannover Germany

9. Department of Pediatric Surgery; Campus Virchow Clinic, Charité University Hospital Berlin; Berlin Germany

10. Department of Pediatric Surgery and Urology; Center for Child and Adolescent Health, Hospital Bremen-Mitte; Bremen Germany

11. Department of Pediatric Surgery; University Hospital Würzburg; Würzburg Germany

12. Department of Pediatric Surgery; University of Heidelberg; Heidelberg Germany

13. Department of Pediatric Surgery; Cnopf'sche Kinderklinik; Nuremberg Germany

14. Department of Pediatric Surgery; Evangelisches Krankenhaus Hamm; Hamm Germany

15. Department of Pediatric Surgery; St. Bernward-Krankenhaus; Hildesheim Germany

16. Department of Pediatric Surgery; University Hospital Greifswald; Greifswald Germany

17. Monitoring of Congenital Malformations Saxony-Anhalt, University of Magdeburg; Magdeburg Germany

18. Department of Neonatology; Children's Hospital, University of Bonn; Bonn Germany

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Reference54 articles.

1. A hypomorphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonadotropin-releasing hormone deficiency in humans;Arauz;Mol Syndromol,2010

2. Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association;Arrington;Am J Med Genet A,2010

3. VATER/VACTERL association: identification of seven new twin pairs, a sytematic review of the literature, and a classical twin analysis;Bartels;Clin Dysmorphol,2012

4. The spectrum of congenital anomalies of the VATER association: an international study;Botto;Am J Med Genet,1997

5. Discrete cell- and stage-specific localisation of fibroblast growth factors and receptor expression during testis development;Cancilla;J Endocrinol,2000

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4. A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies;Frontiers in Pediatrics;2020-06-23

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