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Article

The eldest case of MICPCH with CASK mutation exhibiting gross motor regression.

Brain & development - 1 Mar 2021

Nishio Yosuke, Kidokoro Hiroyuki, Takeo Toshiki, Narita Hajime, Sawamura Fumi, Narita Kotaro, Kawano Yoshihiko, Nakata Tomohiko, Muramatsu Hideki, Hara Shinya, Kaname Tadashi, Natsume Jun

Abstract excerpt

BACKGROUND: MICPCH is manifested as microcephaly associated with pontocerebellar hypoplasia and global developmental delay but developmental regression has never been reported. We describe the detailed clinical history of a woman with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) with a CASK mutation who exhibited gross motor regression after adolescence. CASE: The...

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Identifiers

PMID: 33272775
DOI: 10.1016/j.braindev.2020.11.007

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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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