Documentos de Esperón-Moldes U.S. | REDI

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Subtipo de publicación

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Molecular Genetics and Genomic Medicine(1)

Scientific Reports(1)

Área temáticas

Enfermedades(2)

Anatomía humana, citología, histología(1)

Medicina y salud(1)

Área de conocimiento

Paleontología(1)

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Origen

Palabras Claves

Autosomal recessive congenital ichthyoses (ARCI)(1)

congenital ichthyosiform erythroderma (CIE)(1)

harlequin ichthyosis (HI)(1)

lamellar ichthyosis (LI)(1)

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

Abstract: An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed

Palabras claves:

Daniel Tettamanti-Miranda, Esperón-Moldes U.S., Fachal L., Ginarte M., Gómez-Carballa A., Juan Carlos Ruiz, Martha Montalván-Suárez, Moscoso F., Ordoñez-Ugalde A., Pardo-Seco J., Rodríguez-Pazos L., Salas A., Ugalde-Noritz N., Vega A.

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations

Abstract: Background: Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phe

Palabras claves:

ABCA12 gene, Autosomal recessive congenital ichthyoses (ARCI), congenital ichthyosiform erythroderma (CIE), harlequin ichthyosis (HI), lamellar ichthyosis (LI), splice-site pathogenic variant

Daniel Tettamanti-Miranda, Esperón-Moldes U.S., Fachal L., Ginarte M., Juan Carlos Ruiz, Martha Montalván-Suárez, Moscoso F., Ordoñez-Ugalde A., Rodríguez-Pazos L., Santomé L., Ugalde-Noritz N., Vega A.