TY  - GEN
AU  - Han,Jin
AU  - Yang,Yan-Dong
AU  - He,Yi
AU  - Liu,Wen-Jie
AU  - Zhen,Li
AU  - Pan,Min
AU  - Yang,Xin
AU  - Zhang,Victor Wei
AU  - Liao,Can
AU  - Li,Dong-Zhi
TI  - Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management
SN  - 1097-0223
PY  - 2021///0611
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Achondroplasia
KW  - Adult
KW  - Brain Diseases
KW  - Campomelic Dysplasia
KW  - Carbohydrate Metabolism, Inborn Errors
KW  - Congenital Disorders of Glycosylation
KW  - Female
KW  - Fetal Growth Retardation
KW  - Genetic Counseling
KW  - methods
KW  - Genetic Testing
KW  - Humans
KW  - Ichthyosis
KW  - Limb Deformities, Congenital
KW  - Male
KW  - Microcephaly
KW  - Osteochondrodysplasias
KW  - Osteogenesis Imperfecta
KW  - Parents
KW  - Pathology, Molecular
KW  - Phosphoglycerate Dehydrogenase
KW  - deficiency
KW  - Pregnancy
KW  - Prenatal Care
KW  - Prenatal Diagnosis
KW  - Psychomotor Disorders
KW  - Receptor, Fibroblast Growth Factor, Type 3
KW  - Seizures
KW  - Thanatophoric Dysplasia
KW  - Time Factors
KW  - Trisomy 18 Syndrome
KW  - Ultrasonography, Prenatal
KW  - Exome Sequencing
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1002/pd.5653
ER  -