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Article

Novel variants of ABCC9 in Japanese children with Cantú syndrome.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Mar 2020

Kubota Kazuo, Yamamoto Takahiro, Miyatake Satoko, Matsumoto Naomichi, Fukao Toshiyuki

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PMID: 32198910
DOI: 10.1111/ped.14098

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Related research

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Novel variants of ABCC9 in Japanese children with Cantú syndrome.PMID 32198910Read ↗

Clinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Cantú 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: Findings from 74 patients in the International Cantú Syndrome Registry.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 ↗

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

Dominant missense mutations in ABCC9 cause Cantú syndrome.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 ↗

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