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Article

Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil.

The Journal of dermatology - 1 Mar 2020

Ohko Kentaro, Nakajima Kimiko, Nakajima Hideki, Hiraki Yoko, Kubota Kazuo, Fukao Toshiyuki, Miyatake Satoko, Matsumoto Naomichi, Sano Shigetoshi

Abstract excerpt

Cantu syndrome is an autosomal dominant disorder, first described by Cantu in 1982, that is characterized by congenital hypertrichosis, characteristic facial anomalies and cardiomegaly. Recent investigations have revealed that this syndrome is caused by mutations of ABCC9, which encodes a regulatory subunit of SUR2, an adenosine triphosphate-mediated potassium channel opener, expressed not only in smooth muscle...

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PMID: 31907964
DOI: 10.1111/1346-8138.15216

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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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Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil.PMID 31907964Read ↗

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

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

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