Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype

BACKGROUND: Ligase IV syndrome, a hereditary disease associated with compromised DNA damage response mechanisms, and Urofacial syndrome, caused by an impairment of neural cell signaling, are both rare genetic disorders, whose reports in literature are limited. We describe the first case combining bo...

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Detalles Bibliográficos
Autores principales: Fadda, Abeer, Butt, Fiza, Tomei, Sara, Deola, Sara, Lo, Bernice, Robay, Amal, Al-Shakaki, Alya, Al-Hajri, Noor, Crystal, Ronald, Kambouris, Marios, Wang, Ena, Marincola, Francesco M., Fakhro, Khalid A., Cugno, Chiara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5114772/
https://www.ncbi.nlm.nih.gov/pubmed/27855655
http://dx.doi.org/10.1186/s12881-016-0346-7

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