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; ...

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 ...

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 ...

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 ...

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 ...

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 ...

1 Molecular Medicine Unit, University of Leeds, St James’s University Hospital, Leeds, UK 2 Department of Clinical Genetics, St James’s University Hospital, Leeds, UK Aicardi-Goutiéres syndrome (AGS) ...

7 INSERM U621, IFR 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France 8 Laboratoire de génétique et insuffisance cardiaque, Association Claude Bernard, IFR 14, Groupe Hospitalier ...

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Introduction TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent ...

Background: Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. Methods: This study aimed to identify the mutation present in four unrelated ...