A rareCYP21A2mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance-Reference-Cited by-同舟云学术

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A rareCYP21A2mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance

Published:2015-08-20 Issue:1 Volume:1364 Page:5-10
ISSN:0077-8923
Container-title:Annals of the New York Academy of Sciences
language:en
Short-container-title:Ann. N.Y. Acad. Sci.

Author:

Khattab Ahmed¹,Yuen Tony²,Al-Malki Sultan¹,Yau Mabel¹,Kazmi Diya²,Sun Li²,Harbison Madeleine¹,Haider Shozeb³,Zaidi Mone²,New Maria I.¹

Affiliation:

1. Division of Adrenal Steroid Disorders, Department of Pediatrics; Icahn School of Medicine at Mount Sinai; New York New York

2. Department of Medicine, The Mount Sinai Bone Program; Icahn School of Medicine at Mount Sinai; New York New York

3. School of Pharmacy; University College; London United Kingdom

Funder

National Institutes of Health

Publisher

Wiley

Subject

History and Philosophy of Science,General Biochemistry, Genetics and Molecular Biology,General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/nyas.12864/fullpdf

Reference8 articles.

1. Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency

2. Genotyping steroid 21-hydroxylase deficiency: hormonal reference data;New;J. Clin. Endocrinol. Metab.,1983

3. Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia;Haider;Proc. Natl. Acad. Sci. U.S.A.,2013

4. Genotype-phenotype correlation in 1507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency;New;Proc. Natl. Acad. Sci. U.S.A.,2013

5. Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche;Ghizzoni;Eur. J. Endocrinol.,2011

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1. Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male;European Journal of Medical Genetics;2024-06

2. Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency;Genetic Steroid Disorders;2023

3. Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children;Frontiers in Genetics;2022-03-02

4. Differences of Sex Development;Clinics in Perinatology;2022-03

5. Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba;International Journal of Endocrinology;2021-01-06

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