Background MECOM encodes a developmental and haematopoietic transcription factor associated with a rare early-onset syndrome including bone marrow failure, skeletal and other congenital anomalies.
Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can ...
Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...
Correspondence to Mr Thomas P Potjer, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands; T.P.Potjer{at}lumc.nl Background Pathogenic variants in the CDKN2A ...
Background Fabry disease is an X-linked lysosomal storage disorder resulting from deficiency of the alpha-galactosidase A enzyme leading to accumulation of globotriaosylceramide in multiple organ ...
a Department of Preventive Medicine and Public Health, Creighton University School of Medicine, 2500 California Plaza, Omaha, Nebraska 68178, USA, b Human Cancer Genetics, The Ohio State University, ...
2 International Institute of Molecular and Cell Biology, Warsaw, Poland Correspondence to Dr Małgorzata Kurkowiak, Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish ...
1 Institut de Génétique et du Biologie Moleculaire et Cellulaire, CNRS INSERM, Université Louis Pasteur, Illkirch, CU de Strasbourg, France 2 Department of Clinical Genetics, Leicester Royal Infirmary ...
3 Medical Faculty of the University of Porto, Porto, Portugal ...
3 Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK Background Neurofibromatosis 2 (NF2) is an ...
a Department of Neuropaediatrics and Metabolic Diseases, Philipps University, Marburg, Germany, b The John F Kennedy Institute, Glostrup, Denmark Dr Zschocke, Department of Neuropaediatrics and ...
Background Diagnosis of a child with a genetic condition leads to parents asking whether there is a risk the condition could occur again with future pregnancies. If the cause is identified as an ...
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