Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype

Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness, neurodevelopmental disorder (NDD), midface retrusion, and ellipt...

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Bibliographic Details
Main Authors: Jan Smetana, Vladimira Vallova, Marketa Wayhelova, Eva Hladilkova, Hana Filkova, Vera Horinova, Petr Broz, Aneta Mikulasova, Renata Gaillyova, Petr Kuglík
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-10-01
Series:Frontiers in Genetics
Subjects:
ATS-MR syndrome
trio-based whole exome sequencing
genotype-phenotype analysis
neurodevelopmental disorders
Xq22.3q23 deletions
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.750110/full

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