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Article

Early cardiac involvement in an infantile Sandhoff disease case with novel mutations.

Brain & development - 1 Feb 2017

Lee Hsiu-Fen, Chi Ching-Shiang, Tsai Chi-Ren

Abstract excerpt

INTRODUCTION: Hepatosplenomegaly is often present in infantile Sanshoff disease. However, cardiac involvement is extremely uncommon. CASE REPORT: We describe a 14-month-old female baby who exhibited mitral regurgitation and cardiomegaly at the age of 2months, dilation of the left atrium and left ventricle at age of 6months, followed by regression of developmental milestones after an episode of minor infection at...

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Source

Identifiers

PMID: 27697305
DOI: 10.1016/j.braindev.2016.09.006

Genes

HEXB

Variants

Provenance

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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