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Article

Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome.

Brain & development - 1 May 2020

Ahn Hyunji, Seo Go Hun, Keum Changwon, Heo Sun Hee, Kim Taeho, Choi Jeongmin, Yum Mi-Sun, Lee Beom Hee

Abstract excerpt

Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is responsible for metachromatic leukodystrophy (MLD). Here we report an extremely rare case of PMS characterized by unusual, rapidly progressive developmental regression due to additional pathogenic mutation...

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PMID: 32113700
DOI: 10.1016/j.braindev.2020.02.003

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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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