McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and ...

2 National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK ...

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 ...

a Vitreoretinal Service, Department of Ophthalmology, Box 41, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK, b Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke ...

Department of Dermatology and the Center for Genetic Diseases of the Skin and Hair, Hadassah—Hebrew University Medical Center, Jerusalem, Israel Correspondence to Professor Abraham Zlotogorski, ...

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1 Clinical and Molecular Genetics, Institute of Child Health, UCL, London, UK 2 Institute of Ophthalmology, UCL, London, UK Background Usher syndrome (USH) is an autosomal recessive disorder ...

Background: Silver-Russell syndrome (SRS) is a heterogeneous malformation syndrome characterised by intrauterine and postnatal growth retardation (IUGR, PGR) and dysmorphisms. The basic causes are ...

Background: Fabry disease is a rare X-linked lysosomal storage disorder characterised by severe multisystemic involvement that leads to major organ failure and premature death in affected men and ...