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Article

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

Clinical laboratory - 1 May 2017

Kim HyoIn, Kim SeongWoo, Jeon HaRa, Kim JiYong, Yoo JongHa, Seong MoonWoo, Park SungSup

Abstract excerpt

Cantú syndrome is characterized by congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia and is recognized as a rare syndrome. Although it has previously been reported that the majority of affected individuals have a relatively good prognosis, there are no reports on long-term follow up. Here we report the first case of Cantú syndrome in Korea and the associated changes in overall development with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28627835
DOI: 10.7754/Clin.Lab.2017.170107

Genes

ABCC9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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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.PMID 28627835Read ↗

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Cantú Syndrome: A Poorly Understood Multi-Organ Disorder.Semantic proximity Read ↗

From Array-CGH to Whole-Genome Sequencing: A 29-Year Diagnostic Journey Culminating in the Identification of a De Novo ABCC9 Variant Consistent with Cantú SyndromeSemantic 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 ↗

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

Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.Semantic proximity Read ↗

[Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene].Semantic proximity Read ↗

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

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