NF2 -related schwannomatosis ( NF2 -SWN) (NF2; MIM # 101000) is a neurogenetic condition caused by germline pathogenic variants in the NF2 gene. Affected individuals are predisposed to develop ...

Correspondence to Dr Koji M Nishiguchi, Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, 466-8560, Japan; kmn{at}med.nagoya-u.ac.jp; Professor Koh-Hei Sonoda, ...

Evolving roles within the genomic medicine workforce: a revised framework for UK practice—position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society ...

The microphthalmia-associated transcription factor (MITF) is a key regulator of melanocyte development, function and survival. The p.E318K variant affects SUMOylation at K316 and has been shown to ...

3 Emory University, Department of Human Genetics, Atlanta, GA, USA 4 University of Chicago, Department of Human Genetics, Chicago, IL, USA Correspondence to: Dr C L Martin Emory University, Department ...

Background Two recombinant enzymes (agalsidase alfa 0.2 mg/kg/every other week and agalsidase beta 1.0 mg/kg/every other week) have been registered for the treatment of Fabry disease (FD), at equal ...

Background The utility of diagnostic genetic testing in cardiomyopathy has grown significantly, due to the discovery of novel genes and greater awareness among healthcare professionals. However, a ...

Background Offering genetic testing for Maturity Onset Diabetes of the Young (MODY) to all young patients with type 2 diabetes has been shown to be not cost-effective. This study tests whether a novel ...

Correspondence to Professor Orly Elpeleg, Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Elpeleg{at}hadassah.org.il The ...

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED ...

Neurofibromatosis 1 (NF1) is a tumour suppressor gene syndrome characterized by multiple cutaneous and plexiform neurofibromas. Focal osseous abnormalities, short stature, and decreased bone mineral ...

1 Institute of Human Genetics, Friedrich-Alexander University, Erlangen-Nuremberg, Germany 2 Department of Pediatric Cardiology, Friedrich-Alexander University, Erlangen-Nuremberg, Germany 3 ...