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Article

Clinical and genetic characterization of congenital lipoid adrenal hyperplasia.

Clinical dysmorphology - 1 Oct 2020

Ullah Asmat, Bibi Farah, Haider Nighat, Shahid Gulbin, Abdullah, Mustajab Tamanna, Khaliq Tanwir, Ahmad Wasim

Abstract excerpt

Disorders of steroid synthesis are a group of anomalies caused by defects in any step of conversion of cholesterol into steroid hormones. The disorders are characterized by defects leading to abnormalities of salt-water balance and/or sexual differentiation. Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of steroid synthesis disorder caused by the accumulation of cholesterol in the outer...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32858544
DOI: 10.1097/MCD.0000000000000340

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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