A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations-Reference-Cited by-同舟云学术

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

Published:2019-03-27 Issue:5 Volume:7 Page:e608
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Montalván‐Suárez Martha¹,Esperón‐Moldes Uxia Saraiva²³,Rodríguez‐Pazos Laura⁴,Ordóñez‐Ugalde Andrés²⁵⁶,Moscoso Fernanda⁵,Ugalde‐Noritz Nora⁶,Santomé Luis²,Fachal Laura²,Tettamanti‐Miranda Daniel⁷,Ruiz Juan Carlos⁷⁸,Ginarte Manuel⁹,Vega Ana²^ORCID

Affiliation:

1. Sistema de Investigación y Desarrollo SINDE, Universidad Católica de Santiago de Guayaquil and Universidad de Guayaquil Guayaquil Ecuador

2. Fundación Pública Galega de Medicina Xenómica‐SERGAS, Grupo de Medicina Xenómica‐USC, CIBERER, IDIS Santiago de Compostela Spain

3. Departamento de Ciencias Forenses Anatomía Patolóxica, Xinecoloxía, Obstetricia e Pediatría, Universidade de Santiago de Compostela Santiago de Compostela Spain

4. Servicio de Dermatología del Complejo Hospitalario Universitario de Vigo Vigo Spain

5. Laboratorio Biomolecular Cuenca Ecuador

6. Unidad de Genética y Molecular del Hospital de Especialidades José Carrasco Arteaga Cuenca Ecuador

7. Universidad Espíritu Santo and Hospital Luis Vernaza Guayaquil Ecuador

8. Instituto de Biomedicina Universidad Católica de Santiago de Guayaquil and Centro de Investigación, Universidad Espíritu Santo Guayaquil Ecuador

9. Servicio de Dermatología del Complexo Hospitalario Universitario de Santiago, Facultad de Medicina Santiago de Compostela Spain

Funder

Fundación Ramón Areces

Instituto de Salud Carlos III

Xunta de Galicia

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.608

Reference46 articles.

1. ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

2. Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

3. Compound Heterozygous Mutations Including a De Novo Missense Mutation in ABCA12 Led to a Case of Harlequin Ichthyosis with Moderate Clinical Severity

4. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

5. DNA-Based Prenatal Diagnosis of Harlequin Ichthyosis and Characterization of ABCA12 Mutation Consequences

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1. Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype–phenotype correlations and literature review;Molecular Genetics & Genomic Medicine;2024-05

2. Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes;BMC Medical Genomics;2021-05-26

3. Prenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report;Annals of Translational Medicine;2021-01