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Article

Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.

Clinical genetics - 1 Mar 2021

Lorca Rebeca, Pannone Luca, Cuesta-Llavona Elías, Bocchinfuso Gianfranco, Rodríguez-Reguero Julian, Carpentieri Giovanna, Hernando Inés, Flex Elisabetta, Tartaglia Marco, Coto Eliecer, Gómez Juan, Martinelli Simone

Abstract excerpt

The RASopathies are a family of clinically related disorders caused by mutations affecting genes participating in the RAS-MAPK signaling cascade. Among them, Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are allelic conditions principally associated with dominant mutations in PTPN11, which encodes the nonreceptor SH2 domain-containing protein tyrosine phosphatase SHP2. Individual PTPN11...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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PMID: 33354767
DOI: 10.1111/cge.13904

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