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Article

First HPSE2 missense mutation in urofacial syndrome.

Clinical genetics - 1 Jan 2012

Mahmood S, Beetz C, Tahir M M, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Hassan S A A, Rana S, Nürnberg P, Hübner C A

Abstract excerpt

Urofacial syndrome (UFS) describes the combination of urological problems and an inverted facial expression upon attempts to smile. Seventeen independent familial cases from different ethnicities have been described so far. Some of these have been linked to chromosome 10q. Very recently, homozygous loss-of-function mutations affecting the gene HPSE2 were identified in nine cases. Here, we describe a...

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Share to Chromosomes, Human, Pair 10
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Glucuronidase

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Source

Identifiers

PMID: 21332471
DOI: 10.1111/j.1399-0004.2011.01649.x

Genes

HPSE2

Variants

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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