Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant

被引：5
|
作者：
Wei, Heming [1 ]
Krishnappa, Janardhan [2 ,3 ]
Lin, Grace [1 ]
Kavalloor, Nirmal [4 ]
Lim, Jiin Ying [5 ]
Goh, Chew-Yin Jasmine [6 ]
Jamuar, Saumya Shekhar [3 ,5 ]
Thomas, Terrence [2 ,3 ]
Tan, Ene Choo [1 ,3 ]
机构：
[1] KK Womens & Childrens Hosp, Res Lab, 100 Bukit Timah Rd, Singapore 229899, Singapore
[2] KK Womens & Childrens Hosp, Dept Paediat, Neurol Serv, Singapore, Singapore
[3] SingHlth Duke NUS Med Sch, Paediat Acad Clin Programme, Singapore, Singapore
[4] KK Womens & Childrens Hosp, Dept Neonatol, Singapore, Singapore
[5] KK Womens & Childrens Hosp, Dept Paediat, Genet Serv, Singapore, Singapore
[6] KK Womens & Childrens Hosp, Div Nursing, Singapore, Singapore
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2020年 / 182卷 / 03期
基金：
英国医学研究理事会;
关键词：
NEURONAL MIGRATION; WIDE SPECTRUM; MUTATIONS; BRAIN;
D O I：
10.1002/ajmg.a.61444
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：576 / 578
页数：3
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