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Article

Clinical phenotype of desmosterolosis.

American journal of medical genetics - 13 Jan 1998

FitzPatrick D R, Keeling J W, Evans M J, Kan A E, Bell J E, Porteous M E, Mills K, Winter R M, Clayton P T

Abstract excerpt

We describe a child with lethal multiple malformations and generalised accumulation of desmosterol. The infant had macrocephaly, a hypoplastic nasal bridge, thick alveolar ridges, gingival nodules, cleft palate, total anomalous pulmonary venous drainage, ambiguous genitalia, short limbs, and generalised osteosclerosis. Gas chromatography-mass spectrometry demonstrated an abnormal accumulation of desmosterol in...

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Share to Abnormalities, Multiple
Share to Cholesterol
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 9450875

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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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