Correspondence to Professor Tiong Yang Tan, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; tiong.tan{at}vcgs.org.au Background Clinical ...

Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, 420 W 12th Avenue ...

Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Correspondence to: Dr Anne Lampe Institute of Human Genetics, University of Newcastle upon Tyne, International ...

Correspondence to Dr Katharina Wimmer, Medical University of Innsbruck, Division of Human Genetics, Peter-Mayr-Strasse 1, Innsbruck 6020, Austria; katharina.wimmer{at}i-med.ac.at Due to the ...

OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a ...

The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...

Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a ...

Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA Dr S R Lalani, Department of Molecular and Human Genetics, One Baylor Plaza, BCM225, MARB, R713, ...

Correspondence to Dr Chen Jin-Lian, Department of Gastroenterology, Shanghai Sixth People's Hospital (South), Shanghai Jiaotong University School of Medicine, Shanghai, China; wqq_021002{at}163.com or ...

Background Complex regional pain syndrome type 1 (CRPS-1) is a rare, disabling and sometimes chronic disorder usually arising after a trauma. This exploratory study examined whether patients with ...

Rare diseases are collectively common and often extremely debilitating. Following the emergence of next-generation sequencing (NGS) technologies, the variants underpinning rare genetic disorders are ...

Victorian Clinical Genetics Service, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia Cytogenetic Services Victoria, 165 Burwood Road, Hawthorn, Victoria 3122 ...