Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene. [electronic resource]
Producer: 20130621Description: 76-8 p. digitalISSN:- 1476-5543
- 17-alpha-Hydroxyprogesterone -- blood
- Adrenal Hyperplasia, Congenital -- blood
- Adult
- Chorionic Villi Sampling
- DNA Mutational Analysis
- Diagnostic Errors
- Exons
- Female
- Follow-Up Studies
- Gene Duplication -- genetics
- Genetic Carrier Screening
- Genetic Testing
- HapMap Project
- Humans
- Infant
- Infant, Newborn
- Introns
- Male
- Neonatal Screening
- Pregnancy
- Prenatal Diagnosis
- Renin -- blood
- Steroid 21-Hydroxylase -- genetics
- Young Adult
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Publication Type: Case Reports; Journal Article
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