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Article

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.

American journal of medical genetics. Part A - 1 May 2026

Kleinendorst Lotte, Molegraaf Melanie N S, Grange Dorothy K, Rinkel Rico N P M, van Haelst Mieke M

Abstract excerpt

Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain-of-function of KATP-channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little attention in previous research. A total of 18 participants with molecular...

Topics

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Adolescent
Cardiomegaly
Child
Hypertrichosis
KATP Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Osteochondrodysplasias

Sulfonylurea Receptors

Source

Identifiers

PMID: 41549877
DOI: 10.1002/ajmga.70050

Genes

CS
ABCC9
KCNJ8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Click a neighbor to travelStep 1 · 12 closest

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.PMID 41549877Read ↗

Three-dimensional facial morphology in Cantú syndrome.Semantic proximity Read ↗

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

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

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

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

Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis.Semantic proximity Read ↗

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this conditionSemantic proximity Read ↗

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

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

Towards an evolutionary account of the changes in the human pitch vocal systemSemantic proximity Read ↗

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

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