Background PTEN hamartoma tumour syndrome (PHTS) encompasses distinct syndromes, including Cowden syndrome resulting from PTEN pathogenic variants. Missense variants account for 30% of PHTS cases, but ...

von Hippel-Lindau (VHL) is an autosomal-dominant hereditary tumour susceptibility disease associated with pathogenic germline variants in the VHL tumour suppressor gene. VHL patients are at increased ...

Canadian College of Medical Geneticists: clinical practice advisory document – responsibility to recontact for reinterpretation of clinical genetic testing ...

1 Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan 2 Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan Correspondence to ...

Correspondence to: Professor Moore Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK; tony.moore{at}ucl.ac.uk The inherited macular dystrophies comprise a ...

aDepartment of Neurology, University of Michigan, Ann Arbor, Michigan, USA, bDepartment of Neurology, Hahneman University School of Medicine, Philadelphia PA, USA, cGeriatric Research Education ...

1 Paediatric Neurology Unit, Sheba Medical Centre, Ramat-Gan, Israel 2 Neuroradiology Unit, Sheba Medical Centre, Ramat-Gan, Israel 3 Metabolic-Neurogenetic Clinic, Paediatric Neurology Unit, Wolfson ...

One of the strongest predictors of colorectal cancer risk is carrying a germline mutation in a DNA mismatch repair (MMR) gene. Once identified, mutation carriers can be recommended for intensive ...

Correspondence to Holger Langhof, QUEST-Center for Transforming Biomedical Research, Charité – University Medicine, Berlin Institute of Health (BIH), Berlin 10178, Germany; ...

Background Monogenic hypertension describe a series of hypertensive syndromes that are inherited by Mendelian laws. Sometimes genetic testing is required to provide evidence for their diagnoses, ...

X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy ...

Objective: To report the frequency of single and multiple gene mutations in an Australian cohort of patients with hypertrophic cardiomyopathy (HCM). Methods: Genetic screening of seven HCM genes ...