Author

L. A. Bessonova

2 papers indexed here

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Review Oct 2026

STANKIEWICZ–ISIDOR SYNDROME CAUSED BY A MICRODELETION OF THE LONG ARM OF CHROMOSOME 17: A CASE REPORT AND LITERATURE REVIEW

Stankiewicz–Isidor syndrome (STISS; OMIM #617516) is a rare autosomal dominant disorder caused by haploinsufficiency of the PSMD12 gene. Most reported cases are associated with point variants in the PSMD12 gene, whereas microdeletions involving this locus are much rarer. We present a clinical case of an 8-month-old gir...

A. S. Iakovleva, Zhanna G. Markova, L. A. Bessonova et al. · PEDIATRIA Journal named afte... · 0 citations

Review Open access Sep 2026

Independent coexistence of diseases in neurogenetics: case reports and literature review

Combined hereditary pathology (“double trouble”) in a patient and/or family, previously considered a rarity, is being identified increasingly often due to the development of modern genetic diagnostic methods. We describe 13 patients from 12 families with two hereditary diseases of the nervous system, verified by DNA an...

G. Rudenskaya, A. Kuchina, E. Melnik et al. · Neuromuscular Diseases · 0 citations