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 ...

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 ...

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 ...

a North Trent Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK, b Sheffield Children's Hospital, Sheffield, UK Dr Shannon, Clinical Genetics Unit, Birmingham ...

Background Spasmolytic polypeptide-expressing metaplasia (SPEM) is present in more than 90% of resected gastric cancer tissues. However, although widely regarded as a pre-cancerous tissue, its genetic ...

8 Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Background Silver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that ...

Background Pure partial trisomy of 1q42 to 1q44 (terminal end) is an extremely rare chromosomal abnormality reported in only 5 patients to date. We present one additional case with the breakpoints ...

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

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 ...

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

Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.