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Author

Natalia Semenova

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Open access Oct 2026

Mosaic RASopathies: comprehensive genetic and clinicopathological analysis for diagnosis and management

Mosaic RASopathies are rare conditions caused by postzygotic mutations arising during embryonic development in genes of the RAS/MAPK signaling pathway. They are mainly characterized by a combination of epidermal nevi and extracutaneous manifestations. Distinguishing between different entities can be challenging bec...

T. Belysheva, T. Nasedkina, E. Zelenova et al. · 0 citations
Open access Aug 2026

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

It is demonstrated that early-onset MORC2-associated disorders segregate into two principal neurological phenotypes: a predominantly neuromuscular form and a central nervous system-predominant form.

A. Murtazina, Eugenii Tatarsky, I. Viakhireva et al. · 0 citations

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