The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited Xq24 Deletion including the UBE2A and CXorf56 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 UBE2A and CXorf56 g...

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Detalles Bibliográficos
Autores principales: Wolańska, Ewelina, Pollak, Agnieszka, Rydzanicz, Małgorzata, Pesz, Karolina, Kłaniewska, Magdalena, Rozensztrauch, Anna, Skiba, Paweł, Stawiński, Piotr, Płoski, Rafał, Śmigiel, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997426/
https://www.ncbi.nlm.nih.gov/pubmed/33673493
http://dx.doi.org/10.3390/genes12030350

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997426/
https://www.ncbi.nlm.nih.gov/pubmed/33673493
http://dx.doi.org/10.3390/genes12030350

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