Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.
case_report · Level V
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- Record sourced from PubMed, PMID 16024850.
- Also identified by PMC identifier 1772759.
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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.
Medical subject headings
- Basal Cell Nevus Syndrome
- Cerebellar Neoplasms
- Medulloblastoma
- Microphthalmos
- Receptors, Cell Surface