Genetic causes of moderate to severe hearing loss point to modifiers.
Naz, Sadaf; Imtiaz, Ayesha; Mujtaba, Ghulam; Maqsood, Azra; Bashir, Rasheeda; Bukhari, Ihtisham; Khan, Muhammad R; Ramzan, Memoona; Fatima, Amara; Rehman, Atteeq U; Iqbal, Muddassar; Chaudhry, Taimur; Lund, Merete; Brewer, Carmen C; Morell, Robert J; Friedman, Thomas B.
; 91(4): 589-598, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27573290
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
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