A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

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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
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关键词
Developmental delay; Short stature; Microcephaly; Chromosomal microarray; SNP array; 17q11.2; Microdeletion;
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