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- W4382632400 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。." @default.
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- W4382632400 date "2023-07-02" @default.
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- W4382632400 title "[Microcephaly-short stature-impaired glucose metabolism syndrome in a pedigree]." @default.
- W4382632400 doi "https://doi.org/10.3760/cma.j.cn112140-20221231-01080" @default.
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