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Br J Ophthalmol. 2005 Aug;89(8):988-91.

Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.

Author information

1
Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK. nicky.ragge@anat.ox.ac.uk

Abstract

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.

PMID:
16024850
PMCID:
PMC1772759
DOI:
10.1136/bjo.2004.061390
[Indexed for MEDLINE]
Free PMC Article

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