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Article

Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.

American journal of medical genetics. Part A - 1 Jan 2015

Takenouchi Toshiki, Ohyagi Masaki, Torii Chiharu, Kosaki Rika, Takahashi Takao, Kosaki Kenjiro

Abstract excerpt

COL4A1-associated disorders encompass a wide range of hereditary vasculopathy, including porencephaly and HANAC (adult-onset hemorrhagic stroke with cerebral aneurysm and retinal arterial tortuosity, renal cysts, and thenar muscle cramp). It remains elusive whether or not porencephaly and HANAC are molecularly distinctive disorders due to different classes of mutations. We report on a girl with porencephaly and...

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PMID: 25425218
DOI: 10.1002/ajmg.a.36823

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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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