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Article

Sturge-Weber syndrome with congenital glaucoma and cytochrome P450 (CYP1B1) gene mutations.

Journal of glaucoma - 1 Aug 2010

Tanwar Mukesh, Sihota Ramanjit, Dada Tanuj, Gupta Vinay, Das Taposh K, Yadav Usha, Dada Rima

Abstract excerpt

UNLABELLED: Sturge-Weber syndrome (SWS) is a progressive condition of mesodermal phakomatosis. This preliminary study is the first report of CYP1B1 mutation analysis in SWS with congenital glaucoma. PURPOSE: Mutations in CYP1B1 gene are the major cause of congenital glaucoma. CYP1B1 is involved i...

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Source

Identifiers

PMID: 20051892
DOI: 10.1097/IJG.0b013e3181c4ae74

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20051892-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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