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Article

Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.

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

Akazawa Yohei, Inaba Yuji, Hachiya Akira, Motoki Noriko, Matsuzaki Satoshi, Minatoya Kenji, Morisaki Takayuki, Morisaki Hiroko, Kosaki Kenjiro, Kosho Tomoki, Koike Kenichi

Abstract excerpt

Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder, caused by heterozygous mutations in TGFBR1 or TGFBR2 and characterized by vascular complications (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections) and skeletal manifestations. We here report th...

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Source

Identifiers

PMID: 26096872
DOI: 10.1002/ajmg.a.37202

Genes

TGFBR2
TGFBR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26096872-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

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Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.PMID 26096872Read ↗

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