Key result
Homozygous LZTR1 variant causes early-onset hypertrophic cardiomyopathy identified on retesting after initial negative results.
Case Report (n=2)
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Hazel et al. (2026) conducted a case report in Early-onset hypertrophic cardiomyopathy (HCM) (n=2). Homozygous LZTR1 variant was evaluated. A homozygous LZTR1 variant was identified as the cause of early-onset isolated hypertrophic cardiomyopathy in two siblings upon repeated genetic testing years after initial negative results.
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