Delineation of dominant and recessive forms of LZTR1 ‐associated Noonan syndrome-Reference-Cited by-同舟云学术

Delineation of dominant and recessive forms of LZTR1 ‐associated Noonan syndrome

Published:2019-04-03 Issue:6 Volume:95 Page:693-703
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Pagnamenta Alistair T.¹^ORCID,Kaisaki Pamela J.¹,Bennett Fenella¹,Burkitt‐Wright Emma²,Martin Hilary C.³,Ferla Matteo P.¹,Taylor John M.⁴,Gompertz Lianne²,Lahiri Nayana⁵,Tatton‐Brown Katrina⁵,Newbury‐Ecob Ruth⁶,Henderson Alex⁷,Joss Shelagh⁸,Weber Astrid⁹,Carmichael Jenny¹⁰,Turnpenny Peter D.¹¹,McKee Shane¹²,Forzano Francesca¹³,Ashraf Tazeen¹³,Bradbury Kimberley¹³,Shears Deborah¹⁴,Kini Usha¹⁴,de Burca Anna¹⁴,Blair Edward¹⁴,Taylor Jenny C.¹,Stewart Helen¹⁴,

Affiliation:

1. NIHR Oxford BRCWellcome Centre for Human Genetics, University of Oxford Oxford UK

2. Manchester Centre for Genomic MedicineSt Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre Manchester UK

3. Wellcome Sanger Institute, Wellcome Genome Campus Cambridge UK

4. Oxford NHS Regional Molecular Genetics LaboratoryOxford University Hospitals NHS Trust Oxford UK

5. South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust London UK

6. Department of Clinical GeneticsUniversity Hospitals Bristol NHS Trust Bristol UK

7. Northern Genetics ServiceNewcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

8. West of Scotland Regional Genetics Service, Laboratory Medicine BuildingQueen Elizabeth University Hospital Glasgow UK

9. Department of Clinical GeneticsLiverpool Women's NHS Foundation Trust Liverpool UK

10. Oxford Regional Clinical Genetics ServiceNorthampton General Hospital Northampton UK

11. Clinical Genetics DepartmentRoyal Devon and Exeter NHS Foundation Trust Exeter UK

12. Northern Ireland Regional Genetics ServiceBelfast HSC Trust, Belfast City Hospital Belfast UK

13. Clinical Genetics DepartmentGuy's and St Thomas' NHS Foundation Trust London UK

14. Oxford Centre for Genomic MedicineOxford University Hospitals NHS Foundation Trust Oxford UK

Funder

National Institute for Health Research

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13533

Reference34 articles.

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3. Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

4. Psychological profile of children with Noonan syndrome;Lee DA;Dev Med Child Neurol,2005

5. The Ullrich‐Noonan syndrome (turner phenotype);Nora JJ;Am J Dis Child,1974

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