Background Lowe syndrome (LS) is an X linked disease caused by pathogenic variants in the OCRL gene that impacts approximately 1 in 500 000 children. Classic features include congenital cataract, ...
Purpose von Hippel-Lindau (VHL) syndrome-related renal cell carcinoma (RCC) is the most prevalent hereditary RCC and exhibits clinical heterogeneity, complicating patient management. While VHL gene ...
Background Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We ...
Background Type II, IX and XI collagenopathies encompass Stickler syndrome and a spectrum of related connective tissue disorders with diverse and overlapping phenotypes. This study evaluated outcomes ...
1 Program in Molecular Medicine, University of Massachusetts Medical School, 373 Plantation Street, Worcester, MA 01605, USA 2 Department of Cell Biology, University of Massachusetts Medical School, ...
6 Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands 7 Department of Medical Genetics, University Medical Center Utrecht ...
Background Fabry disease is a progressive multisystemic disease, which affects the kidney and cardiovascular systems. Various treatments exist but decisions on how and when to treat are contentious.
1 Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada 2 Center for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada 3 ...
A familial reciprocal translocation t(6p+;11q−) is presented, unbalanced (6p+) in the craniorachischisic propositus and balanced in his phenotypically normal father, associated with relative ...
Background: Patients with neurofibromatosis 1 (NF1) are shorter than expected and often have low bone mineral density (BMD), but the pathogenesis of these bony problems is poorly understood. Methods: ...
This study was conducted on 3212 Saudi families to investigate the prevalence of consanguineous marriages. The families were interviewed and the information on the relationship between the husband and ...
In recent years, subtelomeric rearrangements have been identified as a major cause of mental retardation and/or malformation syndromes. So far, over 2500 subjects with mental retardation have been ...
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