The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group
of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin …

Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …

The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently
recognized syndrome of multiple congenital anomalies and mental retardation and is the first …

The standard of care for first-tier clinical investigation of the aetiology of congenital malformations
and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy…

Smooth muscle cells (SMCs) contract to perform many physiological functions, including
regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, …

The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group
of heritable connective tissue disorders, which are characterized by joint hypermobility, skin …

Purpose and scope The aim of this Position Statement is to provide recommendations for
Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other …

Centrioles are essential for ciliogenesis. However, mutations in centriole biogenesis genes
have been reported in primary microcephaly and Seckel syndrome, disorders without the …

Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of
neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes, result from …

Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian
disorders, particularly for individuals in whom a known clinical entity could not be assigned. …