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Article

Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.

American journal of medical genetics. Part A - 1 Apr 2022

Schwarz Martin, Ryba Lukáš, Křepelová Anna, Moslerová Veronika, Zelinová Michaela, Turnovec Marek, Martinková Júlia, Kratochvílová Lenka, Drahanský Martin, Macek Milan, Havlovicová Markéta

Abstract excerpt

Zimmermann-Laband syndrome is a rare, heterogeneous disorder characterized by gingival hypertrophy or fibromatosis, aplastic/hypoplastic nails, hypoplasia of the distal phalanges, hypertrichosis, various degrees of intellectual disability, and distinctive facial features. Three genes are considered causative for ZLS: KCNH1, KCNN3, and ATP6V1B2. We report on a pair of female concordant monozygotic twins, both...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34907639
DOI: 10.1002/ajmg.a.62616

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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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