PT  - JOURNAL ARTICLE
AU  - N K Ragge
AU  - A Salt
AU  - J R O Collin
AU  - A Michalski
AU  - P A Farndon
TI  - Gorlin syndrome: the <em>PTCH</em> gene links ocular developmental defects and tumour formation
AID  - 10.1136/bjo.2004.061390
DP  - 2005 Aug 01
TA  - British Journal of Ophthalmology
PG  - 988--991
VI  - 89
IP  - 8
4099  - http://bjo.bmj.com/content/89/8/988.short
4100  - http://bjo.bmj.com/content/89/8/988.full
SO  - Br J Ophthalmol2005 Aug 01; 89
AB  - Aim: To identify a gene linking microphthalmia with cyst with early onset medulloblastoma. Methods: Mutation analysis of the PTCH gene. Results: A mutation in exon 10 of the PTCH gene was identified, confirming a diagnosis of Gorlin syndrome. Conclusions: This is the first genetically identified mutation giving rise to microphthalmia with cyst and provides a valuable link in the eye developmental gene pathway.