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• W2145035596 abstract "To identify a gene linking microphthalmia with cyst with early onset medulloblastoma.Mutation analysis of the PTCH gene.A mutation in exon 10 of the PTCH gene was identified, confirming a diagnosis of Gorlin syndrome.This is the first genetically identified mutation giving rise to microphthalmia with cyst and provides a valuable link in the eye developmental gene pathway." @default.
• W2145035596 created "2016-06-24" @default.
• W2145035596 creator A5085014616 @default.
• W2145035596 date "2005-08-01" @default.
• W2145035596 modified "2023-09-30" @default.
• W2145035596 title "Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation" @default.
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• W2145035596 doi "https://doi.org/10.1136/bjo.2004.061390" @default.
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