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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Detalles Bibliográficos
Autores principales: Smetana, Jan, Vallova, Vladimira, Wayhelova, Marketa, Hladilkova, Eva, Filkova, Hana, Horinova, Vera, Broz, Petr, Mikulasova, Aneta, Gaillyova, Renata, Kuglík, Petr
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8585740/
https://www.ncbi.nlm.nih.gov/pubmed/34777475
http://dx.doi.org/10.3389/fgene.2021.750110

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