Author

Ewa Błaszczyk

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Open access Aug 2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 ‐Related Noonan Syndrome

Two unrelated female pediatric patients evaluated for LZTR1‐related NS following whole‐exome sequencing are reported to illustrate the marked phenotypic variability of LZTR1‐related NS and underscore that, while cardiac defects may be absent in some individuals, appropriate cardiac surveillance remains necessary.

Karolina J Skrzynska, B. Kalina-Faska, Ewa Błaszczyk et al. · Clinical Genetics · 0 citations