Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management. [electronic resource]
Producer: 20210611Description: 577-584 p. digitalISSN:- 1097-0223
- Abnormalities, Multiple -- diagnosis
- Achondroplasia -- diagnosis
- Adult
- Brain Diseases -- diagnosis
- Campomelic Dysplasia -- diagnosis
- Carbohydrate Metabolism, Inborn Errors -- diagnosis
- Congenital Disorders of Glycosylation -- diagnosis
- Female
- Fetal Growth Retardation -- diagnosis
- Genetic Counseling -- methods
- Genetic Testing -- methods
- Humans
- Ichthyosis -- diagnosis
- Limb Deformities, Congenital -- diagnosis
- Male
- Microcephaly -- diagnosis
- Osteochondrodysplasias -- diagnosis
- Osteogenesis Imperfecta -- diagnosis
- Parents
- Pathology, Molecular
- Phosphoglycerate Dehydrogenase -- deficiency
- Pregnancy
- Prenatal Care -- methods
- Prenatal Diagnosis
- Psychomotor Disorders -- diagnosis
- Receptor, Fibroblast Growth Factor, Type 3 -- deficiency
- Seizures -- diagnosis
- Thanatophoric Dysplasia -- diagnosis
- Time Factors
- Trisomy 18 Syndrome -- diagnosis
- Ultrasonography, Prenatal
- Exome Sequencing -- methods
- Young Adult
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Publication Type: Journal Article
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