OMIM新基因发现05

推送日期：.3.28

OMIM编号：

疾病：痉挛性截瘫23型

表型：childhood-onsetspasticparaplegia（痉挛性截瘫）resultingingait（步态）difficultiesandassociatedwithpigmentary（色素）abnormalities,includingprematuregrayingofthehairandvitiligo-likeorhyperpigmentedskinlesions（病变）.

基因：DSTYK

背后的小故事：

Inaffectedmembersof3unrelatedfamiliesofMiddleEasterndescentwithSPG23,includingthefamilyreportedbyMukameletal.()andBlumenetal.(),Leeetal.()identifiedahomozygousintragenicdeletion/insertionintheDSTYKgene(4-KBDELAND20-BPINS).Thedeletion,whichwasfoundbya







































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鐧界櫆椋庝粈涔堢棁鐘跺浘鐗?

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