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Article

Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.

Human mutation - 1 Apr 2012

Ferrero Giovanni Battista, Picco Gabriele, Baldassarre Giuseppina, Flex Elisabetta, Isella Claudio, Cantarella Daniela, Corà Davide, Chiesa Nicoletta, Crescenzio Nicoletta, Timeus Fabio, Merla Giuseppe, Mazzanti Laura, Zampino Giuseppe, Rossi Cesare, Silengo Margherita, Tartaglia Marco, Medico Enzo

Abstract excerpt

Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is genetically heterogeneous, being caused by germline mutations affecting various genes implicated in the RAS signaling network. This network transduces extracellular signals into intracellular biochemical and transcriptional responses controlling cell proliferation, differentiation, metabolism, and...

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Share to Gene Expression Profiling
Share to Intracellular Signaling Peptides and Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukocytes, Mononuclear

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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Share to Transcription, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 22253195
DOI: 10.1002/humu.22026
PMCID: PMC3332054

Genes

PTPN11
SOS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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