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Article

Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.

Brain & development - 1 Mar 2014

Takanashi Jun-ichi, Osaka Hitoshi, Saitsu Hirotomo, Sasaki Masayuki, Mori Harushi, Shibayama Hidehiro, Tanaka Manabu, Nomura Yoshiko, Terao Yasuo, Inoue Ken, Matsumoto Naomichi, Barkovich A James

Abstract excerpt

BACKGROUND: Mutations of POLR3A and POLR3B have been reported to cause several allelic hypomyelinating disorders, including hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome). PATIENTS AND METHODS: To clarify the difference in MRI between the two genotypes, we reviewe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23643445
DOI: 10.1016/j.braindev.2013.03.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23643445-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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