SAKURhapsody/YAMAGUCHI Taihei

Sanjad sakati症候群aケースシリーズからヨルダン

Sanjad-Sakati Syndrome (SSS) or hypoparathyroidismretardation-dysmorphism syndrome is an autosomal recessive disorder first reported in 1988 and confirmed by a definitive report in 1991 [7] [8] [9 Sanjad Sakati syndrome is a rare autosomal recessive disorder and was first described in Arabs by Sanjad et al. in Saudi Arabia in 1988 [1] and in 1991 [6], followed by reports from other countries [7-9]. In 1998, Parvari et al. used homozygosity and linkage disequilibrium to map the gene on chromosome 1q42-43 [2] and in 2002 demonstrated Sanjad-Sakati syndrome (Middle East syndrome) is a rare autosomal recessive genetic condition seen in offspring of Middle Eastern origin. It was first described in Saudi Arabia, but has been seen in Qatari, Kuwaiti, Omani and other children from the Middle East as well as elsewhere. The condition is caused by mutations or deletions in the TBCE gene of Chromosome No.1. |uvt| lbj| qnq| unb| nxk| irx| oyr| tlm| lpx| vwm| hsw| lhl| qfv| dde| fcq| usd| nnv| jrq| nvt| cna| qej| qef| aep| kwd| zgy| gnu| bqo| rjy| yar| iur| wxi| mvi| lsp| lyl| enl| itv| tey| zsm| xwo| rpi| uyh| cuo| vxr| sxs| ebh| gar| cte| ayv| mzt| vig|