Website Terms & Conditions Privacy & Cookies Contact BMJ Cookie settings Online ISSN: 1468-6244 Print ISSN: 0022-2593 Copyright © 2026 BMJ Publishing Group Ltd. All ...
Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants
Mulibrey nanism is a rare disorder caused by biallelic tripartite motif containing protein 37 ( TRIM37 ) variants and characterised by prenatal onset growth failure, dysmorphic features, restrictive ...
Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...
1 Department of Laboratory Medicine and Pathobiology, St Michael’s Hospital Toronto, Canada 2 Cancer Research Program, The Hospital for Sick Children, Department of Immunology and Heart & Stroke ...
4 Arrhythmia Unit, Hospital Clinic Barcelona, University of Barcelona, Barcelona, Spain 5 Arrhythmia Unit, Cardiology Section, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain ...
Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...
1 Department of Neurology, Guy’s and St Thomas’ Hospitals, London, UK 2 Department of Medical Genetics, St Mary’s Hospital, Manchester, UK 3 Department of Neurosurgery, Kings College Hospital, London, ...
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 ...
Background Hereditary colorectal cancer (HCRC) syndromes account for 10% of colorectal cancers but remain underdiagnosed. This feasibility project tested the utility of an artificial ...
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 ...
Correspondence to Dr Alexander Gheldof, Center of Medical Genetics, Universitair Ziekenhuis Brussel, Brussels 1090, Belgium; alexander.gheldof{at}uzbrussel.be During reproductive age, approximately ...
a Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK, b Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160, ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results