1 Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Butenfeld 42, D-22529 Hamburg, Germany 2 Institute of Pathology, University Hospital Hamburg-Eppendorf, Martinistrasse 52, D-20251 ...
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Presymptomatic testing (PT) for Huntington’s disease (HD) has been available for over 40 years. Individuals who opt for PT are typically at a 50% risk, though in rare cases, ‘25% at-risk individuals’ ...
Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of cases. As with many mitochondrial disorders, complex I deficiency is characterised ...
Background Leber’s hereditary optic neuropathy (LHON) has been considered a prototypical mitochondriopathy and a textbook example for maternal inheritance linked to certain disease-causing variants in ...
Background and objectives Cystic fibrosis (CF) is a heterogeneous disease with a diverse genetic spectrum among populations. Few patients with CF of Chinese origin have been reported worldwide. The ...
Correspondence to Luke C Pilling, Department of Clinical and Biomedical Sciences, University of Exeter, Exeter, EX1 2LU, UK; L.Pilling{at}exeter.ac.uk; Luigi Ferrucci, Translational Gerontology Branch ...
Background: Aplasia of the müllerian ducts leads to absence of the uterine corpus, uterine cervix, and upper (superior) vagina. Patients with müllerian aplasia (MA) often exhibit additional clinical ...
Genomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular genetic diagnoses. Variant classification, ranging from benign to pathogenic, is ...
Department of Psychological Medicine, The Henry Wellcome Building for Biomedical Research in Wales, Wales School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK Correspondence to: ...
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 ...
1 Paediatric Neurology Unit, Sheba Medical Centre, Ramat-Gan, Israel 2 Neuroradiology Unit, Sheba Medical Centre, Ramat-Gan, Israel 3 Metabolic-Neurogenetic Clinic, Paediatric Neurology Unit, Wolfson ...
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