Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.

Author:

Lopez-Gutierrez A U,Riba L,Ordonez-Sanchez M L,Ramirez-Jimenez S,Cerrillo-Hinojosa M,Tusie-Luna M T

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. Genetic disorders of adrenal steroidogenic enzymes;New, M.I.; Crawford, C.; Wilson, R.C.,1996

2. Worldwide experience in newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency;Pang, S.; Wallace, M.A.;Pediatrics,1988

3. High frequency of nonclassical steroid 21hydroxylase deficiency;Speiser, P.W.; Dupont, B.; Rubinstein, P.; Piazza, A.; Kastelan, A.; New, M.I.;Am Jf Hum Genet,1985

4. FujiiKuriyama Y Complete nucleotide sequence of two steroid 21-hydroxylase genes arranged in human chromosomes: a pseudogene and;Higashi, Y.; Yoshioka, H.; Yamane, M.; Osamu, G.,1986

5. Structure of human steroid 21-hydroxylase genes;White, P.C.; New, M.I.; Dupont, B.;Proc Natl Acad Sci USA,1986

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