CYP21A2 genetics: When genotype does not fit phenotype
详细信息 查看全文
- 作者：Ilaria Sania ; Aurora Natalia Rossodivitaa ; Michela Mariania ; Alessandra Costellab ; Rossana Molinariob ; Paola Concolinob ; paolaconcolino78@libero.it" class="auth_mail" title="E-mail the corresponding author ; Ettore Capoluongob
- 关键词：CAH ; congenital adrenal hyperplasia ; SW ; salt wasting syndrome
- 刊名：Clinical Biochemistry
- 出版年：2016
- 出版时间：April 2016
- 年：2016
- 卷：49
- 期：6
- 页码：524-525
- 全文大小：203 K
文摘
- •
To increase awareness of genotype–phenotype correlation in congenital adrenal hyperplasia
- •
To increase awareness of CYP21A2molecular diagnosis
- •
To help clinicians dealing with pitfall of CYP21A2 molecular diagnosis