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Article

Implementation of high-resolution melting analysis of the porcupine (PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation.

The journal of gene medicine - 1 May 2020

Martínez-Saucedo Mirna, Ornelas-Fuentes Carolina, Dedden Mark, Sánchez-Urbina Rocío, Díaz-García Héctor, Aquino-Jarquin Guillermo, Moreno-Salgado Rodrigo, Granados-Riveron Javier T

Abstract excerpt

BACKGROUND: Focal dermal hypoplasia (FDH) is rare X-linked dominant disease characterized by atrophy and linear pigmentation of the skin, split hand/foot deformities and ocular anomalies. FDH is caused by mutations of the Porcupine (PORCN) gene, which encodes an enzyme that catalyzes the palmitoylation of Wnt ligands required for their secretion. High resolution melting analysis (HRM) is a technique that allows...

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PMID: 31984575
DOI: 10.1002/jgm.3165

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