{Reference Type}: Journal Article
{Title}: An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy.
{Author}: Chen CP;Lin SP;Liu YP;Chern SR;Wu PS;Su JW;Chen YT;Lee CC;Wang W;
{Journal}: Gene
{Volume}: 529
{Issue}: 1
{Year}: Oct 2013 15
{Factor}: 3.913
{DOI}: 10.1016/j.gene.2013.07.045
{Abstract}: We present a 19-year-old male with laxity of skin and joints, sparse scalp hair, facial dysmorphism, epilepsy, multiple exostoses, scoliosis, gastroesophageal reflux, cardiovascular defects, and an 8q23.3-q24.22 deletion detected by array comparative genomic hybridization. The patient was previously misdiagnosed as having Ehlers-Danlos syndrome. However, his clinical findings are in fact correlated with trichorhinophalangeal syndrome type II/Langer-Giedion syndrome and Cornelia de Lange syndrome-4. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TRPS1, RAD21, EXT1 and KCNQ3 in this case.