Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.

Yixuan CaoXin GuanShan LiNan WuXiumin ChenTao YangBo YangXiuli Zhao

Published in: Molecular genetics & genomic medicine (2022)

Our data suggested ACAN is a common pathogenic gene of SE(M)D. This study enriched the genetic background of skeletal dysplasias, and expanded the mutation spectra of ACAN and PAPSS2.

Keyphrases

copy number
genome wide
electronic health record
big data
dna methylation
density functional theory
transcription factor
deep learning
genome wide identification
genome wide analysis