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Spectrum of Mutations in PTPN11 in Russian Cohort.

Genes - 7 Mar 2024

Orlova Anna, Guseva Daria, Demina Nina, Polyakov Aleksander, Ryzhkova Oksana

Abstract excerpt

Noonan syndrome is a group of diseases with a similar clinical picture, consisting of 16 diseases caused by mutations in 15 genes. According to the literature, approximately half of all cases are attributed to Noonan syndrome type 1, NSML, caused by mutations in the PTPN11 gene. We analyzed 456 unrelated probands using a gene panel NGS, and in 206 cases, the cause of the disease was identified. Approximately half...

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Noonan Syndrome
Mutation
Alleles
Protein Tyrosine Phosphatase, Non-Receptor Type 11
Russia

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PMID: 38540404
DOI: 10.3390/genes15030345
PMCID: PMC10970286

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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