Clinical and genetic aspects of KBG syndrome-Reference-Cited by-同舟云学术

Clinical and genetic aspects of KBG syndrome

Published:2016-09-26 Issue:11 Volume:170 Page:2835-2846
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Low Karen¹,Ashraf Tazeen²,Canham Natalie³,Clayton-Smith Jill⁴⁵,Deshpande Charu²,Donaldson Alan¹,Fisher Richard⁶,Flinter Frances²,Foulds Nicola⁷,Fryer Alan⁸,Gibson Kate⁹,Hayes Ian¹⁰,Hills Alison¹¹,Holder Susan³,Irving Melita²,Joss Shelagh¹²,Kivuva Emma¹³,Lachlan Kathryn⁷,Magee Alex¹⁴,McConnell Vivienne¹⁴,McEntagart Meriel¹⁵,Metcalfe Kay⁴,Montgomery Tara¹⁶,Newbury-Ecob Ruth¹,Stewart Fiona¹⁴,Turnpenny Peter¹³,Vogt Julie¹⁷,Fitzpatrick David¹⁸,Williams Maggie¹¹,Smithson Sarah¹,

Affiliation:

1. University Hospitals Bristol NHS Trust/University of Bristol; Bristol United Kingdom

2. Guy's and St Thomas’ NHS Trust; London United Kingdom

3. North West Thames Regional Genetics Service; Harrow; London United Kingdom

4. Manchester Centre For Genomic Medicine; St Mary's Hospital Manchester; United Kingdom

5. Institute of Human Development; University of Manchester; Manchester United Kingdom

6. Teesside Genetics Unit; The James Cook University Hospital; Middlesbrough United Kingdom

7. Wessex Clinical Genetics Service; Southampton United Kingdom

8. Liverpool Women's NHS Trust; Liverpool United Kingdom

9. Genetic Health Service NZ; Christchurch Hospital; Christchurch New Zealand

10. Genetic Health Service NZ; Auckland Hospital; Auckland New Zealand

11. Bristol Genetics Laboratory; North Bristol NHS Trust; Bristol United Kingdom

12. West of Scotland Department of Clinical Genetics; Glasgow; United Kingdom

13. Royal Devon and Exeter Hospital; Exeter United Kingdom

14. Northern Ireland Regional Genetics Service; Belfast City Hospital; Belfast Ireland

15. South West Thames Clinical Genetics Service; St Georges Hospital; London United Kingdom

16. Northern Genetics Service; Newcastle Upon Tyne United Kingdom

17. West Midlands Regional Genetics Service; Birmingham United Kingdom

18. MRC Human Genetics Unit; MRC Institute of Genetics and Molecular Medicine; University of Edinburgh; Edinburgh United Kingdom

Funder

Health Innovation Challenge Fund

Wellcome Trust and the Department of Health

Wellcome Trust Sanger Institute

National Institute for Health Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism;Ansari;J Med Genet,2014

2. KBG syndrome: A DDD front-runner;Ashraf;Eur Soc Hum Genet Abstract,2015

3. KBG syndrome;Brancati;Orphanet J Rare Dis,2006

4. KBG syndrome: A series of 20 French patients;Busa;Eur Soc Hum Genet Abstract,2015

5. Elements of morphology: Standard terminology for the lips, mouth, and oral region;Carey;Am J Med Genet Part A,2009

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