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 ...

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.

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

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, ...

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 ...

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 ...

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.

* 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 ...

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 ...

1 Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA 2 Surgical ...

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 ...