ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature ...

1 Familial Cancer Unit, South Australian Clinical Genetics Service, Department of Genetic Medicine, Children’s Youth and Women’s Health Service, North Adelaide, Australia 2 Department of Paediatrics, ...

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 The NHS Jewish BRCA Testing Programme is offering germline BRCA1 and BRCA2 genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi ...

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity ...

3 Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands 4 Centre for Rare Diseases and Personalised Medicine and School of Clinical and Experimental Medicine, College of ...

1 Department of Obstetrics and Gynaecology, University Medical Centre, Nijmegen, The Netherlands 2 Department of Gastroenterology, University Medical Centre, Nijmegen, The Netherlands 3 Department of ...

Over 20 years ago, Watson described three families with a condition characterised by pulmonary valvular stenosis, café au lait patches, and dull intelligence. Short stature is an additional feature of ...

1 Laboratory of Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, Netherlands 2 Department of Human and Clinical Genetics, Leiden University ...

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 ...