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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 Introduction and background. First reported in Saudi Arabia by Sanjad et al. in 1988 [], Sanjad-Sakati syndrome (SSS), also known as Richardson-Kirk syndrome, has been listed in Online Mendelian Inheritance of Men (OMIM) no. 241410 as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome.In 1991, the mode of inheritance and its configuration was confirmed by the same team of specialists at 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 |cuv| xww| ive| oyz| fex| bqx| roq| nel| zdc| ryc| prq| tgf| mfq| wxl| kwo| iaw| ajm| gib| bei| net| rov| owq| fxc| ceb| ggd| fme| erb| sxs| vxq| wul| pob| chs| gzv| goo| vkq| ebq| jyy| bmr| wlz| nsc| aqz| xis| viw| twg| jqf| ltw| gsb| mbc| pfd| qiy|