Article
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
BMC medical genetics - 17 Nov 2016
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
Abstract excerpt
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 both disorders in a specific phenotype. CASE PRESENTATION: We report a case of a 7-year old girl presenting with a...
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