LRIG2 mutations cause urofacial syndrome.

doi:10.1016/j.ajhg.2012.12.002

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Article

LRIG2 mutations cause urofacial syndrome.

American journal of human genetics - 7 Feb 2013

Stuart Helen M, Roberts Neil A, Burgu Berk, Daly Sarah B, Urquhart Jill E, Bhaskar Sanjeev, Dickerson Jonathan E, Mermerkaya Murat, Silay Mesrur Selcuk, Lewis Malcolm A, Olondriz M Beatriz Orive, Gener Blanca, Beetz Christian, Varga Rita E, Gülpınar Omer, Süer Evren, Soygür Tarkan, Ozçakar Zeynep B, Yalçınkaya Fatoş, Kavaz Aslı, Bulum Burcu, Gücük Adnan, Yue Wyatt W, Erdogan Firat, Berry Andrew, Hanley Neil A, McKenzie Edward A, Hilton Emma N, Woolf Adrian S, Newman William G

Abstract excerpt

Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, and crying. We report that a subset of UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repeats and immunoglobulin-like domains 2, a...

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Identifiers

PMID: 23313374
DOI: 10.1016/j.ajhg.2012.12.002
PMCID: PMC3567269

Genes

HPSE2

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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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