DOCK6Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies-Reference-Cited by-同舟云学术

DOCK6Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

Published:2015-04-21 Issue:6 Volume:36 Page:593-598
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sukalo Maja¹,Tilsen Felix¹,Kayserili Hülya²³,Müller Dietmar⁴,Tüysüz Beyhan⁵,Ruddy Deborah M.⁶,Wakeling Emma⁷,Ørstavik Karen Helene⁸,Snape Katie M.⁹,Trembath Richard⁶¹⁰,De Smedt Maryse¹¹,van der Aa Nathalie¹²,Skalej Martin¹³,Mundlos Stefan¹⁴,Wuyts Wim¹²¹⁵,Southgate Laura¹⁰¹⁶,Zenker Martin¹

Affiliation:

1. Institute of Human Genetics; University Hospital Magdeburg; Magdeburg Germany

2. Medical Genetics Department; Istanbul Medical Faculty; Istanbul Turkey

3. Medical Genetics Department; School of Medicine; Koc University; Istanbul Turkey

4. Institut für Medizinische Genetik; Klinikum Chemnitz; Chemnitz Germany

5. Department of Pediatric Genetics; Istanbul University; Istanbul Turkey

6. Department of Clinical Genetics; Guy's Hospital; London UK

7. North West Thames Regional Genetics Service; North West London Hospitals NHS Trust; Harrow UK

8. Department of Medical Genetics; Oslo University Hospital; Oslo Norway

9. Department of Clinical Genetics; St. George's Healthcare NHS Trust; London UK

10. Barts and The London School of Medicine and Dentistry; Queen Mary University of London; London UK

11. Department of Medical Genetics; Leuven University Hospital; Leuven Belgium

12. Department of Medical Genetics; Antwerp University Hospital; Antwerp Belgium

13. Institute of Neuroradiology; University Hospital Magdeburg; Magdeburg Germany

14. Institute for Medical and Human Genetics Charité; Universitätsmedizin Berlin and Max Planck Institute for Molecular Genetics Berlin; Berlin Germany

15. Department of Medical Genetics; University of Antwerp; Antwerp Belgium

16. Division of Genetics and Molecular Medicine; King's College London; London UK

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22795/fullpdf

Reference16 articles.

1. Hereditary deformities in man due to arrested development;Adams;J Hered,1945

2. Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome;Brancati;Am J Med Genet A,2008

3. Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity;Cote;J Cell Sci,2002

4. RBPJ mutations identified in two families affected by Adams-Oliver syndrome;Hassed;Am J Hum Genet,2012

5. Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations;Isrie;Am J Med Genet A,2014

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