Whole exome sequencing with comprehensive gene set analysis identified a biparental-origin homozygous c.509G>a mutation in PPIB gene clustered in two taiwanese families exhibiting fetal skeletal dysplasia during prenatal ultrasound

Ting Yu Chang, I. Fang Chung, Wan Ju Wu, Shun Ping Chang, Wen Hsiang Lin, Norman A. Ginsberg, Gwo Chin Ma*, Ming Chen

*此作品的通信作者

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7 引文 斯高帕斯(Scopus)

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Keyphrases

Biochemistry, Genetics and Molecular Biology