Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype
Crossref DOI link: https://doi.org/10.1186/s12881-016-0346-7
Published Online: 2016-11-17
Published Print: 2016-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
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
License valid from 2016-11-17