The brachydactylies are a group of conditions in which various subtypes have been defined based upon the specific pattern of digital bones involved. Type A1 brachydactyly is principally characterised ...

Correspondence to: Professor Kate Bushby Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK; ...

4 The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus Correspondence to Dr Peristera Paschou, Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA; ...

Correspondence to Dr William D Foulkes, Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec H4A 3J1, Canada; william.foulkes{at}mcgill.ca Non-epithelial ovarian tumours ...

Correspondence to Dr Jenny Downs, The University of Western Australia, Perth, WA 6009, Australia; jenny.downs{at}telethonkids.org.au Background Rett syndrome is a genetically caused neurodevelopmental ...

Background For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A testing pathway of somatic tumour testing triage followed by germline mismatch ...

1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...

1 Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children’s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK 2 Merseyside and Cheshire Molecular Genetics Laboratory, ...

Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can ...

Correspondence to Dr Francesca Maltecca, Division of Genetics and Cell Biology IRCCS Ospedale San Raffaele and Università Vita-Salute San Raffaele, Via Olgettina 58, Milan 20132, Italy; ...

Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...