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

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 ...

*Department of Clinical Genetics, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands †Department of Clinical Genetics, Erasmus University Medical Centre Rotterdam, ...

2 North West Thames Regional Genetics Service, Kennedy-Galton Centre, London North West University Healthcare NHS Trust, Harrow, UK This is an open access article distributed in accordance with the ...

METHODS A large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by linkage and clinical examination. RESULTS ...