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Article

Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.

Journal of human genetics - 1 Apr 2017

Abdel-Hamid Mohamed S, Abdel-Salam Ghada M H, Issa Mahmoud Y, Emam Bayoumi A, Zaki Maha S

Abstract excerpt

Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is an extremely rare autosomal recessive disorder with distinctive clinical and neuroimaging findings. To date, only 17 patients from 9 unrelated families with BLC-PMG have been reported worldwide. Herein, we describe a series of 13 new patients derived from 10 unrelated Egyptian families. Patients presented at early life with the...

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Source

Identifiers

PMID: 28179633
DOI: 10.1038/jhg.2017.4

Genes

OCLN

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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