Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.
Sign Up to like & getrecommendations! Published in 2017 at "Genetic Testing and Molecular Biomarkers"
DOI: 10.1089/gtmb.2016.0421
Abstract: Objectives: Waardenburg syndrome (WS) is a rare autosomal dominant disorder associated with pigmentation abnormalities and sensorineural hearing loss. In this study, we investigated the genetic cau... read more here.
Keywords: heterozygous deletion; deletion sox10; waardenburg syndrome; identification novel ... See more keywords
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay.
Sign Up to like & getrecommendations! Published in 2023 at "Cytogenetic and genome research"
DOI: 10.1159/000528468
Abstract: Neurodevelopmental syndromes due to copy number variation are well-known clinical entities. While the numerical variation of gene-harboring regions has been widely investigated at both molecular and clinical levels, much less is understood about unbalanced expression… read more here.
Keywords: deletion; neurodevelopmental delay; long noncoding; heterozygous deletion ... See more keywords
Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.800095
Abstract: Cystic fibrosis (CF) is a rare disease in the Japanese. The most common CFTR variant in Japanese CF patients is a large heterozygous deletion that can easily avoid detection by standard gene sequencing methods. We… read more here.
Keywords: heterozygous deletion; cftr gene; cftr; large heterozygous ... See more keywords
[WAGR syndrome by heterozygous deletion of the WT1 gene. Pediatric case report].
Sign Up to like & getrecommendations! Published in 2019 at "Archivos argentinos de pediatria"
DOI: 10.5546/aap.2019.e505
Abstract: WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) is an uncommon genetic disorder due to the deletion of the 11p13 region that contains the WT1 and PAX6 genes. It involves a distinctive combination… read more here.
Keywords: heterozygous deletion; deletion; report; wilms tumor ... See more keywords