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Article

Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency.

European journal of endocrinology - 1 Sept 2000

Weintrob N, Brautbar C, Pertzelan A, Josefsberg Z, Dickerman Z, Kauschansky A, Lilos P, Peled D, Phillip M, Israel S

Abstract excerpt

OBJECTIVE: To evaluate whether genotype differences can explain the clinical variability of non-classical steroid 21-hydroxylase deficiency (NC21-OHD) and to determine if genotype is related to ethnic origin. DESIGN: Genotyping for mutations in the steroid 21-hydroxylase (CYP21) gene was performed in 45 unrelated Israeli Jewish patients (nine males) with NC21-OHD (60min 17-hydroxyprogesterone (17-OHP),...

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PMID: 11022183
DOI: 10.1530/eje.0.1430397

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Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.Semantic proximity Read ↗

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