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2. Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome
作者:Aimee L Fenwick (1)
Jacqueline AC Goos (2)
Julia Rankin (3)
Helen Lord (4)
Tracy Lester (4)
A Jeannette M Hoogeboom (5)
Ans MW van den Ouweland (5)
Steven A Wall (6)
Irene MJ Mathijssen (2)
Andrew OM Wilkie (1) (6)

1. Weatherall Institute of Molecular Medicine
; John Radcliffe Hospital ; University of Oxford ; Headington ; Oxford ; OX3 9DS ; UK
2. Department of Plastic and Reconstructive Surgery and Hand Surgery
; Erasmus MC ; University Medical Center ; Rotterdam ; The Netherlands
3. Clinical Genetics Department
; Royal Devon and Exeter NHS Foundation Trust ; Exeter ; UK
4. Genetics Laboratories
; Oxford University Hospitals NHS Trust ; Churchill Hospital ; Oxford ; UK
5. Department of Clinical Genetics
; Erasmus MC ; University Medical Center ; Rotterdam ; The Netherlands
6. Craniofacial Unit
; Oxford University Hospitals NHS Trust ; John Radcliffe Hospital ; Oxford ; UK
刊名:BMC Medical Genetics
出版年:2014
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