Výsledky vyhledávání - "Carolina Ornelas-Fuentes"

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

Autor: Carolina Ornelas-Fuentes, Mirna Martínez-Saucedo, Guillermo Aquino-Jarquin, Hector Diaz-Garcia, Mark Dedden, Rodrigo Moreno-Salgado, Rocío Sánchez-Urbina, Javier T. Granados-Riveron

Publikováno v: The journal of gene medicineREFERENCES. 22(5)

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1ca0c97e0b8e8b22599703188d7115e
https://pubmed.ncbi.nlm.nih.gov/31984575

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