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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 ...
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British Society for Genetic Medicine

Website Terms & Conditions Privacy & Cookies Contact BMJ Cookie settings Online ISSN: 1468-6244 Print ISSN: 0022-2593 Copyright © 2026 BMJ Publishing Group Ltd. All ...
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Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome

8 Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France 9 Laboratoire de génétique chromosomique et moléculaire, CHU ...
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Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative ...

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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High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

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 ...
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Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics ...

Objective To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration ...
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Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients

7 INSERM U621, IFR 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France 8 Laboratoire de génétique et insuffisance cardiaque, Association Claude Bernard, IFR 14, Groupe Hospitalier ...
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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

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 ...
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Rhizomelic chondrodysplasia punctata and cardiac pathology

1 Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands 2 Department of Pediatric Cardiology, Emma Children's Hospital, Academic Medical ...
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Genetics of arrhythmogenic right ventricular cardiomyopathy

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 ...
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The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

Objective: To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosome ...
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A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

Diamond-Blackfan anaemia (DBA) is a constitutional red blood cell hypoplasia which may be associated with a variety of developmental abnormalities. A gene for DBA was recently mapped to chromosome ...