Biallelic LZTR1 variants in a 49‐year‐old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults
Author:
Affiliation:
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
Funder
Ministero della Salute
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63518
Reference15 articles.
1. Cross-species analysis of LZTR1 loss-of-function mutants demonstrates dependency to RIT1 orthologs
2. Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy
3. LZTR1 -Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features
4. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
5. Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome
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