Molecular analysis ofCYP21A2can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia-Reference-Cited by-同舟云学术

Molecular analysis ofCYP21A2can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia

Published:2009-12 Issue:6 Volume:76 Page:503-510
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Silveira EL,Elnecave RH,dos Santos EP,Moura V,Pinto EM,van der Linden Nader I,Mendonca BB,Bachega TASS

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01274.x/fullpdf

Reference32 articles.

1. Congenital adrenal hyperplasia;Speiser;N Engl J Med,2003

2. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden. Implications for genetic diagnosis and association with disease manifestation.;Wedell;J Clin Endocrinol Metab,1994

3. Congenital adrenal hyperplasiaâa continuum of disorders;Hughes;Lancet,1998

4. Lawson Wilkins drug and therapeutics committee. adrenal insufficiency: still a cause of morbidity and death in childhood.;Shulman;Pediatrics,2007

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