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Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4
Background Hereditary haemorrhagic telangiectasia (HHT) is an inherited disorder of vascular malformations. It is caused by inherited loss-of-function mutations in one of three genes, ENG, ACVRL1 or ...
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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
2 National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK ...
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Online First
Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics service ...
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Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B
Methods We analyse the molecular mechanisms underlying the FIX deficiency through in silico analysis and reproducing the c.459G>A (Val107Val) mutation in stable cell lines. Conformation and ...
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Clinical and molecular genetics of Stickler syndrome
a Vitreoretinal Service, Department of Ophthalmology, Box 41, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK, b Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke ...
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Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
Correspondence to Dr Ian P Blair, Biomedical Sciences, Macquarie University Faculty of Medicine and Health Sciences, Sydney, NSW 2109, Australia; ian.blair{at}mq.edu.au Background Amyotrophic lateral ...
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Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and ...
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The twisting tale of woolly hair: a trait with many causes
Department of Dermatology and the Center for Genetic Diseases of the Skin and Hair, Hadassah—Hebrew University Medical Center, Jerusalem, Israel Correspondence to Professor Abraham Zlotogorski, ...
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Cleidocranial dysplasia: clinical and molecular genetics
Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a ...
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Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
Correspondence to Professor Tiong Yang Tan, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; tiong.tan{at}vcgs.org.au Background Clinical ...
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Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome
1 Section on Epigenetics and Development, National Institute of Child Health and Human Development, Bethesda, Maryland, USA 2 Cardiovascular and Pulmonary Branch, National Heart, Lung and Blood ...
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Recessively inherited lower incisor hypodontia
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