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See Latest ArticlesPhenotype and genotype in 17 patients with Goltz-Gorlin Syndrome
Journal of Medical Genetics, 07/24/09
Maas SM et al. – PORCN mutations can be found in all classically affected cases with Goltz–Gorlin syndrome, including males. Somatic and germline mosaicism occur. There is no evident genotype–phenotype correlation.
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