Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review

The widespread use of whole exome sequencing (WES) resulted in the discovery of multilocus pathogenic variations (MPV), defined as two or more distinct or overlapping Mendelian disorders occurring in a patient, leading to a blended phenotype. In this study, we report on a child with autosomal recess...

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Detalles Bibliográficos
Autores principales: Correia-Costa, Gabriela Roldão, dos Santos, Ana Mondadori, de Leeuw, Nicole, Rigatto, Sumara Zuanazi Pinto, Belangero, Vera Maria Santoro, Steiner, Carlos Eduardo, Gil-da-Silva-Lopes, Vera Lúcia, Vieira, Társis Paiva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778442/
https://www.ncbi.nlm.nih.gov/pubmed/36553645
http://dx.doi.org/10.3390/genes13122377

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778442/
https://www.ncbi.nlm.nih.gov/pubmed/36553645
http://dx.doi.org/10.3390/genes13122377

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