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Article

Mongolian spots in GM1 gangliosidosis: a pictorial report.

Clinical dysmorphology - 1 Jan 2021

Mishra Shivani, Pai Pranita, Uttarilli Anusha, Girisha Katta Mohan

Abstract excerpt

GM1 gangliosidosis is a lysosomal storage disorder, characterized by psychomotor deterioration, visceromegaly, facial coarseness, retinal cherry-red spots, and skeletal abnormalities. We report six unrelated patients with GM1 gangliosidosis with extensive Mongolian spots on the trunk and extremities that provided clue to clinical diagnosis. All patients exhibited psychomotor delay, coarse facies,...

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Identifiers

PMID: 33038107
DOI: 10.1097/MCD.0000000000000353

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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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