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Article

Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.

American journal of medical genetics. Part A - 1 Jan 2014

Hiraki Yoko, Miyatake Satoko, Hayashidani Michiko, Nishimura Yutaka, Matsuura Hiroo, Kamada Masahiro, Kawagoe Takuji, Yunoki Keiji, Okamoto Nobuhiko, Yofune Hiroko, Nakashima Mitsuko, Tsurusaki Yoshinori, Satisu Hirotomo, Murakami Akira, Miyake Noriko, Nishimura Gen, Matsumoto Naomichi

Abstract excerpt

Cantu syndrome is an autosomal dominant overgrowth syndrome associated with facial dysmorphism, congenital hypertrichosis, and cardiomegaly. Some affected individuals show bone undermodeling of variable severity. Recent investigations revealed that the disorder is caused by a mutation in ABCC9, encoding a regulatory SUR2 subunit of an ATP-sensitive potassium channel mainly expressed in cardiac and skeletal muscle...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24352916
DOI: 10.1002/ajmg.a.36228

Genes

ABCC9

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.PMID 24352916Read ↗

A new type of ATP-sensitive potassium channelopathy : Cantú syndrome.Semantic proximity Read ↗

Clinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Cantú Syndrome.Semantic proximity Read ↗

Cantú syndrome is caused by mutations in ABCC9.Semantic proximity Read ↗

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.Semantic proximity Read ↗

Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.Semantic proximity Read ↗

Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestationsSemantic proximity Read ↗

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.Semantic proximity Read ↗

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.Semantic proximity Read ↗

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.Semantic proximity Read ↗

Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways.Semantic proximity Read ↗

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.Semantic proximity Read ↗

Dominant missense mutations in ABCC9 cause Cantú syndrome.Semantic proximity Read ↗

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