Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene

BACKGROUND: Wide genome screening through array comparative genomic hybridization made possible the recognition of the novel 19q13.11 deletion syndrome. There are very few cases reported with this deletion, but clinically this condition seems to be recognizable by pre and postnatal growth retardatio...

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Detalles Bibliográficos
Autores principales: Melo, Joana B, Estevinho, Alexandra, Saraiva, Jorge, Ramos, Lina, Carreira, Isabel M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399573/
https://www.ncbi.nlm.nih.gov/pubmed/25883683
http://dx.doi.org/10.1186/s13039-015-0123-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399573/
https://www.ncbi.nlm.nih.gov/pubmed/25883683
http://dx.doi.org/10.1186/s13039-015-0123-x

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