Biallelic mutations in UGDH cause congenital microcephaly

被引：1

作者：

Shu, Li ^{[1
,2
,3
,4
,5
]}

Xie, Guangyao ^{[1
]}

Mei, Daoqi ^{[6
]}

Xu, Rui ^{[7
]}

Liu, Shixian ^{[8
]}

Xiao, Bo ^{[9
]}

Li, Xing ^{[10
]}

Xie, Yuanyuan ^{[9
]}

Mao, Xiao ^{[1
,11
,12
]}

Wang, Hua ^{[13
]}

机构：

[1] Hunan Prov Maternal & Child Hlth Care Hosp, Natl Hlth Commiss Key Lab Birth Defect Res & Prev, Changsha 410005, Hunan, Peoples R China

[2] Univ Calgary, Cumming Sch Med, Dept Biochem, Calgary, AB T2N 4N1, Canada

[3] Univ Calgary, Cumming Sch Med, Dept Mol Biol, Calgary, AB T2N 4N1, Canada

[4] Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB T2N 4N1, Canada

[5] Univ Calgary, Alberta Childrens Hosp, Res Inst, Calgary, AB T2N 4N1, Canada

[6] Zhengzhou Univ, Dept Neurol, Childrens Hosp, Zhengzhou 450018, Henan, Peoples R China

[7] Xinjiang Med Univ, Sch Basic Med Sci, Dept Cell Biol & Genet, Urumqi 830054, Xinjiang, Peoples R China

[8] Ganzhou Women & Childrens Hlth Care Hosp, Dept Pediat Neurol & Rehabil, Ganzhou 341000, Jiangxi, Peoples R China

[9] Xiangya Hosp, Dept Neurol, Changsha 410005, Hunan, Peoples R China

[10] Guangxi Med Univ, Dept Pediat, Affiliated Hosp 1, Nanning 530021, Guangxi, Peoples R China

[11] Hunan Prov Maternal & Child Hlth Care Hosp, Dept Med Genet, Changsha 410005, Hunan, Peoples R China

[12] Hunan Prov Maternal & Child Hlth Care Hosp, Clin Res Ctr Placental Med Hunan Prov, Changsha 410005, Hunan, Peoples R China

[13] Hunan Childrens Hosp, Dept Med Genet, Changsha 410007, Hunan, Peoples R China

来源：

GENES & DISEASES | 2023年 / 10卷 / 05期

关键词：

GENE;

D O I：

10.1016/j.gendis.2022.12.007

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

[No abstract available]

引用

页码：1816 / 1819

页数：4

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