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p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Prematur...

p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Prematur...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_844d86afe4b9423ab70c051cb8a1d006

p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche

About this item

Full title

p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche

Publisher

Cairo, Egypt: Hindawi Publishing Corporation

Journal title

International journal of endocrinology, 2020, Vol.2020 (2020), p.1-9

Language

English

Formats

Publication information

Publisher

Cairo, Egypt: Hindawi Publishing Corporation

More information

Scope and Contents

Contents

Premature pubarche (PP) is the appearance of sexual hair in children before puberty. The PP phenotype may attribute to nonclassic congenital adrenal hyperplasia (NC-CAH). In this study, we investigated the role of CYP21A2 gene variants in patients with PP in the Iranian population. Forty patients (13 males and 27 females), clinically diagnosed with...

Alternative Titles

Full title

p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_844d86afe4b9423ab70c051cb8a1d006

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_844d86afe4b9423ab70c051cb8a1d006

Other Identifiers

ISSN

1687-8337

E-ISSN

1687-8345

DOI

10.1155/2020/4329791

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