Novel Mutations Including Deletions of the EntireOFD1Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability-Reference-Cited by-同舟云学术

Novel Mutations Including Deletions of the EntireOFD1Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

Published:2012-10-17 Issue:1 Volume:34 Page:237-247
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bisschoff Izak J.¹,Zeschnigk Christine¹,Horn Denise²,Wellek Brigitte³,Rieß Angelika⁴,Wessels Maja⁵,Willems Patrick⁶,Jensen Peter⁷,Busche Andreas¹,Bekkebraten Jens⁸,Chopra Maya⁹,Hove Hanne Dahlgaard¹⁰,Evers Christina¹¹,Heimdal Ketil¹²,Kaiser Ann-Sophie¹,Kunstmann Erdmut¹³,Robinson Kristina Lagerstedt¹⁴,Linné Maja¹⁵,Martin Patricia¹⁶,McGrath James¹⁷,Pradel Winnie¹⁸,Prescott Katrina E.¹²,Roesler Bernd¹,Rudolf Gorazd¹⁹,Siebers-Renelt Ulrike²⁰,Tyshchenko Nataliya²¹,Wieczorek Dagmar²²,Wolff Gerhard¹,Dobyns William B.²³,Morris-Rosendahl Deborah J.¹

Affiliation:

1. Institute of Human Genetics, University Clinic Freiburg; Freiburg; Germany

2. Institut für Medizinische Genetik, Charité; Berlin; Germany

3. Institut für Humangenetik, Johannes-Gutenberg-Universität Mainz Klinikum; Mainz; Germany

4. MVZ Universitätsklinikum Tübingen; Tübingen; Germany

5. Human Genetics, Erasmus University; Rotterdam; The Netherlands

6. GENDIA, Antwerp; Belgium

7. Department of Clinical Genetics, University Hospital of Aarhus; Aarhus; Denmark

8. Department of Paediatrics, Visby Hospital, Visby; Sweden

9. Medical Genetics, Sydney Children's Hospital; Sydney; Australia

10. Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen; Denmark

11. Institute of Human Genetics, Heidelberg University; Heidelberg; Germany

12. Department of Medical Genetics, Oslo University Hospital; Oslo; Norway

13. Institute of Human Genetics, Universtiy of Würzburg; Würzburg; Germany

14. Department of Clinical Genetics, Karolinska University Hospital Solna; Stockholm; Sweden

15. Mitteldeutscher Praxisverbund Humangenetik, Praxis Dresden am Kinderzentrum, Dresden; Germany

16. Centro de Análisis Genéticos; Zaragoza; Spain

17. Department of Genetics, Yale School of Medicine; New Haven; Connecticut

18. Klinik und Poliklinik für Mund-, Kiefer- und Gesichtschirurgie, Universitätsklinikum, Carl Gustav Carus an der Technischen Universität Dresden, Dresden; Germany

19. Clinical Institute of Medical Genetics, Department of, Obstetrics and Gynecology, University Medical Center Ljubljana, Ljubljana; Slovenia

20. Institute of Human Genetics, Westfälische Wilhelms-Universität Münster, Münster; Germany

21. Institut für Klinische Genetik, Medizinische Fakulität Carl Gustav Carus; Dresden; Germany

22. Institut für Humangenetik, Universitätsklinikum Essen, Essen; Germany

23. Center for Integrative Brain Research, Seattle Children's Research Institute; Seattle; Washington

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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3. Ofd1 is required in limb bud patterning and endochondral bone development;Bimonte;Dev Biol,2011

4. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism;Borozdin;J Med Genet,2004

5. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome;Budny;Hum Genet,2006

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