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ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature

Background Pathogenic gain-of-function or dominant-negative effect missense variations in ACTB are associated with a neurodevelopmental disorder characterised by intellectual disability (ID), seizures ...
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Mutations in hepatocyte nuclear factor-1β and their related phenotypes

Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK Correspondence to: Professor Andrew T Hattersley Diabetes and Vascular Medicine, Peninsula Medical School, Barrack ...
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Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

1 Nuffield Department of Obstetrics and Gynaecology, University of Oxford, The Women's Centre, John Radcliffe Hospital, Oxford, UK 2 Department of Clinical Neuroscience, King's College Hospital, ...
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Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism

Neonatal haemochromatosis (NH) is a severe and newly recognised syndrome of uncertain aetiology, characterised by congenital cirrhosis or fulminant hepatitis and widespread tissue iron deposition. NH ...
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Is growth hormone treatment beneficial or harmful in Costello syndrome?

1 Regional Genetic Service and University Department of Medical Genetics, Central Manchester and Manchester Children’s University Hospitals NHS Trust, Manchester, UK 2 Department of Endocrinology, ...
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MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes

1 Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan 2 Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan Correspondence to ...