De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

出版年份 2016 全文链接

标题

作者

关键词

ASXL2, macrocephaly, whole-exome sequencing, developmental delay, intellectual disability, glabellar nevus flammeus

出版物

Volume 99, Issue 4, Pages 991-999

出版商

Elsevier BV

发表日期

2016-10-02

DOI

10.1016/j.ajhg.2016.08.017

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