Background Parkinson’s disease (PD) is a neurodegenerative disorder with complex genetic architecture. Besides rare mutations in high-risk genes related to monogenic familial forms of PD, multiple ...

METHODS A large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by linkage and clinical examination. RESULTS ...

2 North West Thames Regional Genetics Service, Kennedy-Galton Centre, London North West University Healthcare NHS Trust, Harrow, UK This is an open access article distributed in accordance with the ...

Purpose: To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. Design: Observational and ...

Background Testing cancers for mismatch repair deficiency (dMMR) by immunohistochemistry (IHC) is a quick and inexpensive means of triaging individuals for germline Lynch syndrome testing. The aim of ...

1 Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA 2 Surgical ...

Clinical Genetic Service, Department of Health, Hong Kong SAR, China Background: Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most ...

1 Department of Medical Genetics, Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada 2 Department of Clinical Genetics, Centre for Human ...

1 Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Butenfeld 42, D-22529 Hamburg, Germany 2 Institute of Pathology, University Hospital Hamburg-Eppendorf, Martinistrasse 52, D-20251 ...

Correspondence to Professor Beom Hee Lee and Prof. Han-Wook Yoo, Department of Pediatrics, University of Ulsan College of Medicine and Asan Medical Center, Seoul, 05505, Korea; bhlee{at}amc.seoul.kr, ...