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Article

Behavioral and cognitive functioning in individuals with Cantú syndrome.

American journal of medical genetics. Part A - 1 Aug 2021

Roessler Helen I, van der Heuvel Lieke M, Shields Kathleen, Guilliams Kristin P, Knoers Nine V A M, van Haaften Gijs, Grange Dorothy K, van Haelst Mieke M

Abstract excerpt

Cantú syndrome (CS) is caused by pathogenic variants in ABCC9 and KCNJ8 encoding the regulatory and pore-forming subunits of ATP-sensitive potassium (KATP ) channels. CS is characterized by congenital hypertrichosis, distinctive facial features, peripheral edema, and cardiac and neurodevelopmental abnormalities. Behavioral and cognitive issues have been self-reported by some CS individuals, but results of formal...

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Identifiers

PMID: 34056838
DOI: 10.1002/ajmg.a.62348
PMCID: PMC8631004

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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.

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