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A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features
被引:0
|作者:
Bobo Xie
Xin Fan
Yaqin Lei
Rongyu Chen
Jin Wang
Chunyun Fu
Shang Yi
Jingsi Luo
Shujie Zhang
Qi Yang
Shaoke Chen
Yiping Shen
机构:
[1] Guangxi Maternal and Child Health Hospital,Department of Genetic and Metabolic Central Laboratory
[2] Boston Children’s Hospital,Department of Laboratory Medicine
来源:
关键词:
Developmental delay;
Short stature;
Microcephaly;
Chromosomal microarray;
SNP array;
17q11.2;
Microdeletion;
D O I:
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