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Last Updated: 10/31/2025
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Found 62 publications
Absence of Neurodevelopmental Impairment in an Individual With KCNN3 -Related Zimmermann Laband Syndrome.
Journal: American journal of medical genetics. Part A
Published: August 14, 2024
Clinical management of hereditary gingival fibromatosis: Case report with 13 years follow-up.
Journal: Clinical advances in periodontics
Published: August 09, 2024
Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis.
Journal: International journal of molecular sciences
Published: June 20, 2024
Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis.
Journal: International journal of molecular sciences
Published: June 20, 2024
ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.
Journal: American journal of medical genetics. Part A
Published: January 27, 2024
ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.
Journal: American journal of medical genetics. Part A
Published: January 27, 2024
A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
Journal: American journal of medical genetics. Part A
Published: May 10, 2023
Zimmermann-Laband syndrome-associated hereditary gingival fibromatosis.
Journal: Journal of Indian Society of Periodontology
Published: December 21, 2022
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Journal: Human genetics
Published: May 07, 2021
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.
Journal: American journal of medical genetics. Part A
Published: March 15, 2021
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Journal: European journal of human genetics : EJHG
Published: November 09, 2020
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
Journal: Journal of medical genetics
Published: October 14, 2020
Last Updated: 10/31/2025