Published in:
01-01-2012 | Clinical Brief
Novel Mutation in a Child with Goltz Syndrome
Published in: Indian Journal of Pediatrics | Issue 1/2012
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Goltz syndrome or focal dermal hypoplasia is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. The authors report a female child clinically diagnosed as Goltz syndrome, confirmed to have a novel splice site mutation IVS2 + 1G > A of PORCN gene. Review of the 80 or so pathogenic mutations reported in the literature shows this to be a new mutation.