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

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...

Full description

Bibliographic Details
Main Authors: Gabriela Roldão Correia-Costa, Ana Mondadori dos Santos, Nicole de Leeuw, Sumara Zuanazi Pinto Rigatto, Vera Maria Santoro Belangero, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Genes
Subjects:
dual molecular diagnoses
recessive inheritance
consanguineous parents
primary microcephaly
nephropathic cystinosis
<i>ASPM</i>
Online Access:https://www.mdpi.com/2073-4425/13/12/2377

Internet

https://www.mdpi.com/2073-4425/13/12/2377

Similar Items