Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Correspondence to: Dr Anne Lampe Institute of Human Genetics, University of Newcastle upon Tyne, International ...
Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine of the University of Hong Kong, Hong Kong SAR, China If you wish to reuse any ...
Correspondence to Dr Chantal Babb de Villiers, PHG Foundation, University of Cambridge, Cambridge CB1 8RN, UK; chantal.babbdevilliers{at}phgfoundation.org The use of genomic information to better ...
Dyslexia is among the most common neurodevelopmental disorders, with a prevalence of 5–12%. At the phenotypic level, various cognitive components that enable reading and spelling and that are ...
Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...
1 Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada 2 Center for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada 3 ...
Immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX, OMIM 304790) is a rare, recessive disorder resulting in aggressive autoimmunity and early death. Mutations in FOXP3 have been ...
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4 Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands 5 Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands 6 ...
Oesophageal atresia and/or tracheo-oesophageal fistula are relatively common malformations occurring in approximately 1 in 3500 births. In around half of the cases (syndromic oesophageal atresia), ...
The Hospital for Children and Adolescents, Biomedicum Helsinki, University of Helsinki, 00029 HYKS, Finland Correspondence to: Dr M Lipsanen-Nyman The Hospital for Children and Adolescents, University ...
We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS). He ...
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