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Article

RSK2 is a modulator of craniofacial development.

PloS one - 1 Jan 2014

Laugel-Haushalter Virginie, Paschaki Marie, Marangoni Pauline, Pilgram Coralie, Langer Arnaud, Kuntz Thibaut, Demassue Julie, Morkmued Supawich, Choquet Philippe, Constantinesco André, Bornert Fabien, Schmittbuhl Matthieu, Pannetier Solange, Viriot Laurent, Hanauer André, Dollé Pascal, Bloch-Zupan Agnès

Abstract excerpt

BACKGROUND: The RSK2 gene is responsible for Coffin-Lowry syndrome, an X-linked dominant genetic disorder causing mental retardation, skeletal growth delays, with craniofacial and digital abnormalities typically associated with this syndrome. Craniofacial and dental anomalies encountered in this rare disease have been poorly characterized. METHODOLOGY/PRINCIPAL FINDINGS: We examined, using X-Ray microtomographic...

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Share to Craniofacial Abnormalities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to MAP Kinase Signaling System

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Share to Ribosomal Protein S6 Kinases, 90-kDa

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Identifiers

PMID: 24416220
DOI: 10.1371/journal.pone.0084343
PMCID: PMC3885557

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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