A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis

标题
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis
作者
关键词
Meier-Gorlin syndrome, Craniosynostosis, Synonymous variant
出版物
European Journal of Medical Genetics
Volume 64, Issue 4, Pages 104182
出版商
Elsevier BV
发表日期
2021-02-25
DOI
10.1016/j.ejmg.2021.104182

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