The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited Xq24 Deletion including the <i>UBE2A</i> and <i>CXorf56</i> Genes

The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited Xq24 Deletion including the <i>UBE2A</i> and <i>CXorf56</i> Genes

Psychomotor delay, hypotonia, and intellectual disability, as well as heart defects, urogenital malformations, and characteristic cranio-facial dysmorphism are the main symptoms of dysmorphic syndrome associated with intergenic deletion in the Xq24 chromosome region including the <i>UBE2A</...

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Bibliographic Details
Main Authors: Ewelina Wolańska, Agnieszka Pollak, Małgorzata Rydzanicz, Karolina Pesz, Magdalena Kłaniewska, Anna Rozensztrauch, Paweł Skiba, Piotr Stawiński, Rafał Płoski, Robert Śmigiel
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Genes
Subjects:
<i>UBE2A</i> gene
<i>CXorf56</i> gene
contiguous gene deletion Xq24
intellectual disability
dysmorphic syndrome
Online Access:https://www.mdpi.com/2073-4425/12/3/350

Internet

https://www.mdpi.com/2073-4425/12/3/350

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