A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss

Nesrin Gariballa, Afif Ben-Mahmoud, Makanko Komara, Aisha M. Al-Shamsi, Anne John, Bassam R. Ali, Lihadh Al-Gazali

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)

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Medicine & Life Sciences