Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to ...
Background Fabry disease is an X-linked lysosomal storage disorder resulting from deficiency of the alpha-galactosidase A enzyme leading to accumulation of globotriaosylceramide in multiple organ ...
Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a ...
Correspondence to Dr Norbert Weiss, Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Praha 166 10, Czech Republic; weiss{at}uochb.cas.cz; Dr Gerald W Zamponi, Department of ...
2 Trinity College Institute of Neuroscience, Trinity College, Dublin, Ireland 3 Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Dublin, Ireland 4 TrinSeq, Institute of Molecular ...
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia ...
A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death ...
Correspondence to Lee-Jun C Wong, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA; ljwong{at}bcm.edu Mitochondria are the ...
Background Advances in next generation sequencing (NGS) technology have made it possible to interrogate comprehensively genome-wide genetic variations. However, most existing tools for variation ...
Correspondence to Dr Hui-Qi Qu, University of Texas Health Science Center at Houston, School of Public Health, Brownsville campus, 80 Fort Brown, SPH Bldg, Brownsville, TX 78520, USA; ...
We report a boy with truncus arteriosus, dysmorphic features, developmental delay, passing hypotonia, short segment Hirschsprung disease (HSCR), and paroxysmal hypoventilation. FISH analysis showed an ...
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