Cohen syndrome is a rare, recessively inherited condition associated with facial dysmorphism, developmental delay, and visual disability. A delay in making the diagnosis commonly occurs, contributed ...

Background Despite well-established criteria for genetic testing to rule out hereditary cancer syndromes (HCSs), most pathogenic variant (PV) carriers are not being tested. Thus, mechanisms that allow ...

Abteilung Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Federal Republic of Germany. We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, ...

Objectives Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention ...

* 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 ...

A 9-year-old boy with classical clinical features of trisomy 13 (Patau's syndrome), with confirmation on chromosome analysis of blood and skin, is reported in view of his relative longevity.

a Department of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK, b Primary Care and Population Sciences, University College Medical School, Royal Free Campus, Rowland Hill Street, ...

Clinical and genetic characteristics of PLA2G6-related parkinsonism in Southwest China and a comprehensive literature review ...

a Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charité University Hospital, Humboldt University, D-10098 Berlin, Germany, b Department of Pediatrics and Munroe Center ...

5 Saudi Human Genome Project, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia Background Inherited cystic kidney disorders are a common cause of end-stage renal disease.

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 ...

Correspondence to G Beunders, Department of Clinical Genetics, VU University Medical Center Amsterdam, Reception D, De Boellelaan 1117, Amsterdam 1081 HV, The Netherlands; g.beunders{at}vumc.nl ...