19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype

The 19q13.11 microdeletion syndrome (MIM613026) is a clinically recognisable condition in which a 324-kb minimal overlapping critical region has been recently described. However, genes not included within this region, such as WTIP and UBA2, have been proposed to contribute to the clinical characteri...

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Detalles Bibliográficos
Autores principales: Venegas-Vega, Carlos, Nieto-Martínez, Karem, Martínez-Herrera, Alejandro, Gómez-Laguna, Laura, Berumen, Jaime, Cervantes, Alicia, Kofman, Susana, Fernández-Ramírez, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266984/
https://www.ncbi.nlm.nih.gov/pubmed/25516771
http://dx.doi.org/10.1186/s13039-014-0061-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266984/
https://www.ncbi.nlm.nih.gov/pubmed/25516771
http://dx.doi.org/10.1186/s13039-014-0061-z

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