|
|||||
|
|
Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions |
|
| Authors: | Rong Mao Lesa Nelson Richard Kates Christine E Miller David L Donaldson Wei Tang Kenneth Ward |
| Institution: | 1. DNA Diagnostic Laboratory, University of Utah School of Medicine, Salt Lake City, UT, USA;2. Tri Cities Maternal Fetal Medicine, Richland, WA, USA;3. Obstetrical Diagnostic Center, University of Utah Health Science Center, Salt Lake City, UT, USA;4. Division of Pediatric Endocrinology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA |
| Abstract: | |
| Keywords: | congenital adrenal hyperplasia (CAH) prenatal diagnosis 21-hydroxylase gene (CYP21) and pseudogene (CYP21P) gene conversion and rearrangement |