Open AccessWhole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports
Author(s) -
Li Wang,
Ruiqi Li,
Jingfang Zhai,
Bei Zhang,
Jiebin Wu,
Libo Pang,
Ying Li
Publication year - 2022
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000031321
Subject(s) - medicine , proband , exome sequencing , prenatal diagnosis , genetic counseling , genetic testing , apert syndrome , pediatrics , fetus , osteogenesis imperfecta , pregnancy , obstetrics , pathology , genetics , surgery , mutation , craniosynostosis , gene , biology