Clinical and genetic aspects of KBG syndrome
Karen Low(University Hospitals Bristol NHS Foundation Trust), Shelagh Joss(Oulu University Hospital), Emma Kivuva(Royal Devon and Exeter Hospital), Charu Deshpande(Guy's Hospital), Julie Vogt(Birmingham Women's Hospital), Peter D. Turnpenny(Royal Devon and Exeter Hospital), Nicola Foulds(Wessex Regional Genetics Laboratory), Tazeen Ashraf(Guy's and St Thomas' NHS Foundation Trust), David Fitzpatrick(Western General Hospital), Vivienne McConnell(University of Ulster), Jill Clayton‐Smith(St. Mary’s Hospital), Melita Irving(Guy's and St Thomas' NHS Foundation Trust), Frances Flinter(Guy's and St Thomas' NHS Foundation Trust), Ruth Newbury‐Ecob(University Hospitals Bristol NHS Foundation Trust), Susan Holder(Northwick Park Hospital), Ian Hayes(Auckland City Hospital), Fiona Stewart(University of Ulster), Kate Gibson(Christchurch Hospital), Alan Donaldson(University Hospitals Bristol NHS Foundation Trust), Alex Magee(University of Ulster), Alan Fryer(University of Liverpool), Alison Hills(North Bristol NHS Trust), Kay Metcalfe(Manchester Academic Health Science Centre), Natalie Canham(London North West Healthcare NHS Trust), Tara Montgomery(Newcastle upon Tyne Hospital), Richard Fisher(James Cook University Hospital), Maggie Williams(North Bristol NHS Trust), Meriel McEntagart(St George's Hospital)
Cited by 138
Related Papers
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
|Nature|1993|1.5k
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
|Journal of Medical Genetics|1999|971
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
|New England Journal of Medicine|2008|811
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I
|The Journal of Experimental Medicine|2010|721