Despite the identification of many genes involved in developmental eye phenotypes, a large percentage of families lack genetic diagnoses, suggesting novel mechanisms remain to be discovered. Large ...
Background Whole genome sequencing (WGS) has recently been introduced as a diagnostic test for patients with particular rare diseases in the National Health Service (NHS) in England. Little is known ...
We report on the association of absent patellae, genital and renal anomalies, dysmorphic features, and mental retardation in seven children (six boys and one girl) belonging to five unrelated families ...
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 ...
Strabismus (misalignment of the eyes; also known as “squint”) comprises a common heterogeneous group of disorders characterised by a constant or intermittent ocular deviation often associated with ...
*Department of Optometry and Vision Sciences, University of Wales, Redwood Building, King Edward VII Avenue, PO Box 905, Cardiff CF1 3XF, UK †Department of Psychological Medicine, University of Wales, ...
Correspondence to G Beunders, Department of Clinical Genetics, VU University Medical Center Amsterdam, Reception D, De Boellelaan 1117, Amsterdam 1081 HV, The Netherlands; g.beunders{at}vumc.nl ...
Background Myotonic dystrophy type 1 (DM1) is a multisystem disorder with autosomal dominant inheritance, caused by the abnormal expansion of the CTG triplet in the DMPK gene. Biomarker discovery in ...
Correspondence to Dr Rando Allikmets, Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute Research Annex, 635 West 165th Street, Box # 28, New York, NY 10032, USA; rla22 ...
Bipolar disorder (also known as manic depressive illness) is a complex genetic disorder in which the core feature is pathological disturbance in mood (affect) ranging from extreme elation, or mania, ...
Background Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to GLA variants. Females with Fabry disease often experience ...
1 Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands 2 Metabolic Diseases, Wilhelmina Children's Hospital, University of Utrecht, ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results
Feedback