Han, Jin <br/><br/>
Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.  [electronic resource] 

 -  Prenatal diagnosis  04 2020 
 - 577-584 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1097-0223 
<br/><br/><label>Standard No.: </label>10.1002/pd.5653  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Achondroplasia--diagnosis<br/>Adult<br/>Brain Diseases--diagnosis<br/>Campomelic Dysplasia--diagnosis<br/>Carbohydrate Metabolism, Inborn Errors--diagnosis<br/>Congenital Disorders of Glycosylation--diagnosis<br/>Female<br/>Fetal Growth Retardation--diagnosis<br/>Genetic Counseling--methods<br/>Genetic Testing--methods<br/>Humans<br/>Ichthyosis--diagnosis<br/>Limb Deformities, Congenital--diagnosis<br/>Male<br/>Microcephaly--diagnosis<br/>Osteochondrodysplasias--diagnosis<br/>Osteogenesis Imperfecta--diagnosis<br/>Parents<br/>Pathology, Molecular<br/>Phosphoglycerate Dehydrogenase--deficiency<br/>Pregnancy<br/>Prenatal Care--methods<br/>Prenatal Diagnosis<br/>Psychomotor Disorders--diagnosis<br/>Receptor, Fibroblast Growth Factor, Type 3--deficiency<br/>Seizures--diagnosis<br/>Thanatophoric Dysplasia--diagnosis<br/>Time Factors<br/>Trisomy 18 Syndrome--diagnosis<br/>Ultrasonography, Prenatal<br/>Exome Sequencing--methods<br/>Young Adult