TY - JOUR T1 - Gorlin syndrome: the <em>PTCH</em> gene links ocular developmental defects and tumour formation JF - British Journal of Ophthalmology JO - Br J Ophthalmol SP - 988 LP - 991 DO - 10.1136/bjo.2004.061390 VL - 89 IS - 8 AU - N K Ragge AU - A Salt AU - J R O Collin AU - A Michalski AU - P A Farndon Y1 - 2005/08/01 UR - http://bjo.bmj.com/content/89/8/988.abstract N2 - 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. ER -