Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)

por Fan, Lihong, Jin, Pengzhen, Qian, Yeqing, Shen, Guosong, Shen, Xueping, Dong, Minyue
Publicado 2022

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing

por Fan, Lihong, Ji, Longfei, Xu, Yuqing, Shen, Guosong, Tang, Kefeng, Li, Zhi, Ye, Sisi, Shen, Xueping
Publicado 2022

Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors

por Shen, Xueping, Li, Zhi, Pan, Xuekui, Yao, Juan, Shen, Guosong, Zhang, Su, Dong, Minyue, Fan, Lihong
Publicado 2023