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Article

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.

Clinical genetics - 1 Mar 2011

Germanaud D, Rossi M, Bussy G, Gérard D, Hertz-Pannier L, Blanchet P, Dollfus H, Giuliano F, Bennouna-Greene V, Sarda P, Sigaudy S, Curie A, Vincent M C, Touraine R, des Portes V

Abstract excerpt

Since the first reports of polyglutamine-binding protein 1 (PQBP1) mutations in Renpenning syndrome and related disorders, the spectrum of PQBP1-linked clinical manifestations has been outlined from rare published case reports. The phenotypic description is often obtained from medical archives, a...

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Source

Identifiers

PMID: 20950397
DOI: 10.1111/j.1399-0004.2010.01551.x

Genes

PQBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20950397-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.PMID 20950397Read ↗

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