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Article

[Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 May 2015

Xie Ting, Zheng Ji-Peng, Huang Yong-Lan, Fan Chun, Wu Dong-Yan, Tan Min-Yi, Li Xiu-Zhen, Cheng Jing, Liu Li

Abstract excerpt

This article reported the clinical manifestations, steroid profiles and adrenal ultrasound findings in two unrelated Chinese girls with lipoid congenital adrenal hyperplasia (LCAH). Direct DNA sequencing and restriction fragment length polymorphism (RFLP) analysis were used to identify the mutations of steroidogenic acute regulatory protein (StAR) gene. The two patients with 46,XX karyotype, presented...

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Share to Adrenal Hyperplasia, Congenital
Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disorder of Sex Development, 46,XY

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Share to Polymorphism, Restriction Fragment Length

Share to Steroidogenic Acute Regulatory Protein

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Identifiers

PMID: 26014698

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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