Hypochondroplasia (HCH) is an autosomal dominant condition characterised by short stature, micromelia, and lumbar lordosis. In a series of 29 HCH probands (13 sporadic cases, 16 familial cases), we ...

Motor kinesins are a family of evolutionary conserved proteins involved in intracellular trafficking of various cargoes, first described in the context of axonal transport. They were discovered to ...

Department of Physiology, Biophysics, and Neuroscience, Center for Research and Advanced Studies of the National Polytechnic Institute (Cinvestav-IPN), Mexico ...

The types of malignancy reported in carriers of constitutional ring chromosomes r(11), r(13), and r(22) are concordant with the chromosomal assignment of tumour suppressor loci associated with Wilms' ...

1 Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China Correspondence to Yulan Lu, Children's Hospital & ...

1 Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK 2 Department of Dermatology, Royal Victoria Infirmary, Queen Victoria Road, Newcastle ...

* Department of Paediatrics, Faculty of Medicine, National University of Singapore, Lower Kent Ridge Road, Singapore 119074, Republic of Singapore † National University Medical Institutes, Faculty of ...

Background: Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt–Hopkins syndrome (PTHS), an underdiagnosed ...

*Division of Cytogenetics, Department of Pathology, Montreal Children's Hospital and McGill University, Montreal, Canada †Department of Human Genetics, McGill University, Montreal, Quebec, Canada. ‡F ...

*Department of Medical Genetics, Haartman Institute, PO Box 21 (Haartmaninkatu 3), FIN-00014 University of Helsinki, Helsinki, Finland †Finnish Genome Centre, PO Box 21 (Tukholmankatu 2), FIN-00014 ...

Background Familial haemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with uncontrolled inflammation; the clinical course usually starts within the first years of life, and is ...

Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK Correspondence to Professor A O M Wilkie, Weatherall Institute of Molecular Medicine, University of Oxford, John ...