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Article

PPP1CB-Related Noonan Syndrome with Loose Anagen Hair: A Systematic Review.

Genes - 26 May 2026

Reynolds Giuseppe, Calvo Marta, Luca Maria, Massuras Stefania, Rondot Federico, Cardaropoli Simona, Mussa Alessandro

Abstract excerpt

Background: PPP1CB-related Noonan syndrome-like disorder with loose anagen hair type 2 (NSLH2; OMIM #617506) is a rare RASopathy caused by pathogenic variants in PPP1CB, encoding the catalytic beta subunit of protein phosphatase 1 (PP1C). Since its first description in 2016, only a limited number of patients have been reported, leaving the full phenotypic spectrum and genotype-phenotype correlations largely...

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Identifiers

PMID: 42353762
DOI: 10.3390/genes17060603
PMCID: PMC13300324

Genes

PPP1CB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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