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Article

Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians.

The Journal of clinical endocrinology and metabolism - 1 Oct 2007

Abdulhadi-Atwan Maha, Jean Amy, Chung Wendy K, Meir Karen, Ben Neriah Ziva, Stratigopoulos George, Oberfield Sharon E, Fennoy Ilene, Hirsch Harry J, Bhangoo Amrit, Ten Svetlana, Lerer Israela, Zangen David H

Abstract excerpt

CONTEXT: Congenital lipoid adrenal hyperplasia (CLAH), caused by mutations in steroidogenic acute regulatory protein (StAR), is most frequent in Japanese and Palestinians. We report eight Palestinians from four unrelated families with CLAH. OBJECTIVE: The objective of the study was to identify the mutation(s) in StAR, correlate genotype with phenotype, and determine whether the common mutation represents a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 17666473
DOI: 10.1210/jc.2007-1306

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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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