Biallelic LZTR1 variants in a 49-year-old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults

Am J Med Genet A. 2024 May;194(5):e63518. doi: 10.1002/ajmg.a.63518. Epub 2023 Dec 22.

Authors

Giuseppe Di Stolfo¹, Antonio Petracca², Ester Maria Lucia Bevere¹, Riccardo Pracella², Domenico Rosario Potenza¹, Carmela Fusco², Sandra Mastroianno¹, Marco Castori²

Affiliations

¹ Division of Cardiology, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
² Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

PMID: 38135892
DOI: 10.1002/ajmg.a.63518

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Cardiomyopathy, Hypertrophic* / complications
Cardiomyopathy, Hypertrophic* / diagnosis
Cardiomyopathy, Hypertrophic* / genetics
Female
Humans
Middle Aged
Mutation
Phenotype
Transcription Factors / genetics

Substances

LZTR1 protein, human
Transcription Factors

Grants and funding