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Article

Autosomal recessive hypercholesterolaemia in a Morrocan family due to a mutation of the G266C LDL receptor.

BMJ case reports - 23 May 2012

El Aziz Siham, Chadli Asma, El Ghomari Hassan, Farouqi Ahmed

Abstract excerpt

Familial hypercholesterolaemia (FH) is quite common genetic disorder resulting in high low-density lipoprotein (LDL) cholesterol levels, but homozygous FH is rare. The authors describe a Moroccan family where a 24-year-old man and his 13-year-old brother, born from a consanguineous union, showed characteristics of FH with large tendon, tuberous and planar xanthomas. They had already five deaths in the sibship...

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Identifiers

PMID: 22669020
DOI: 10.1136/bcr.02.2012.5717
PMCID: PMC3369364

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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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