Background Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in TUBB2A have been reported in ...
Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands Correspondence to: F A Sayed-Tabatabaei Department of Epidemiology and Biostatistics, Erasmus Medical ...
2 St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK 3 Department of Dermatology, Great Ormond Street Hospital NHS Trust, London, UK 4 The Robin Eady National ...
1 Department of Endocrinology and Metabolism, Amsterdam Lysosome Center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands 2 Laboratory of Genetic Metabolic ...
Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual ...
Correspondence to Dr William D Foulkes, Department of Medical Genetics, Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, 3755 Cote St. Catherine Road, Montreal, Québec, Canada H3T ...
Background: According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of colorectal tumours ...
The investigation of mtDNA disease can be relatively straightforward if a person has a recognisable phenotype and if it is possible to identify a known pathogenic mtDNA mutation. The difficulties ...
In the UK, most patients receive publicly funded medical care through the National Health Service (NHS), which funds tumour and/or germline testing for eligible patients with cancer to inform clinical ...
Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are ...
5 Molecular Medicine Unit, Institute of Child Health, London, UK 6 Behavioural and Brain Sciences Unit, Institute of Child Health, London, UK Correspondence to: Dr T Charman, Behavioural and Brain ...
Cohen syndrome is a rare, recessively inherited condition associated with facial dysmorphism, developmental delay, and visual disability. A delay in making the diagnosis commonly occurs, contributed ...
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