Y Liu, Q Chen, F Liu, Y X Zhang, L H Shen, H Y Wei
{"title":"[小头畸形-矮身材-谱系中的糖代谢障碍综合征]。","authors":"Y Liu, Q Chen, F Liu, Y X Zhang, L H Shen, H Y Wei","doi":"10.3760/cma.j.cn112140-20221231-01080","DOIUrl":null,"url":null,"abstract":"8岁和4岁11月龄2患儿来自同一家系，分别以“生长发育迟缓、诊断糖尿病并血糖不稳”和“间断抽搐”于2022年4月就诊于河南省儿童医院内分泌遗传代谢科，临床表现均存在小头畸形、身材矮小及不同程度的神经系统损伤，基因检测提示为PPP1R15B基因复合杂合变异，其中c.1972C>T：p.R658C遗传自母亲，c.49_65dup：p.P23Afs*66遗传自父亲，诊断为小头畸形-身材矮小-糖代谢缺陷综合征。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":"61 7","pages":"651-653"},"PeriodicalIF":0.0000,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Microcephaly-short stature-impaired glucose metabolism syndrome in a pedigree].\",\"authors\":\"Y Liu, Q Chen, F Liu, Y X Zhang, L H Shen, H Y Wei\",\"doi\":\"10.3760/cma.j.cn112140-20221231-01080\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"8岁和4岁11月龄2患儿来自同一家系，分别以“生长发育迟缓、诊断糖尿病并血糖不稳”和“间断抽搐”于2022年4月就诊于河南省儿童医院内分泌遗传代谢科，临床表现均存在小头畸形、身材矮小及不同程度的神经系统损伤，基因检测提示为PPP1R15B基因复合杂合变异，其中c.1972C>T：p.R658C遗传自母亲，c.49_65dup：p.P23Afs*66遗传自父亲，诊断为小头畸形-身材矮小-糖代谢缺陷综合征。.\",\"PeriodicalId\":23998,\"journal\":{\"name\":\"Zhonghua er ke za zhi = Chinese journal of pediatrics\",\"volume\":\"61 7\",\"pages\":\"651-653\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-07-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Zhonghua er ke za zhi = Chinese journal of pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3760/cma.j.cn112140-20221231-01080\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zhonghua er ke za zhi = Chinese journal of pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112140-20221231-01080","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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