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

2017 ◽  
Vol 173 (5) ◽  
pp. 1257-1263 ◽  
Author(s):  
Nesrin Gariballa ◽  
Afif Ben-Mahmoud ◽  
Makanko Komara ◽  
Aisha M. Al-Shamsi ◽  
Anne John ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Aberrant Splice ◽  
Site Mutation

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

2014 ◽  
Vol 59 (12) ◽  
pp. 683-686 ◽  
Author(s):  
Saima Siddiqi ◽  
Muhammad Ismail ◽  
Jaap Oostrik ◽  
Saba Munawar ◽  
Atika Mansoor ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Sensorineural Hearing ◽  
Pakistani Family ◽  
Site Mutation

scholarly journals A novel splice site mutation in theRDXgene causes DFNB24 hearing loss in an Iranian family

2009 ◽  
Vol 149A (3) ◽  
pp. 555-558 ◽  
Author(s):  
A. Eliot Shearer ◽  
Michael S. Hildebrand ◽  
Catherine J. Bromhead ◽  
Kimia Kahrizi ◽  
Jennifer A. Webster ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Iranian Family

scholarly journals A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss

2008 ◽  
Vol 16 (5) ◽  
pp. 593-602 ◽  
Author(s):  
Nele Hilgert ◽  
Vedat Topsakal ◽  
Joost van Dinther ◽  
Erwin Offeciers ◽  
Paul Van de Heyning ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Splice Site ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Similar Phenotype

A novel splice site mutation inEYA4 causes DFNA10 hearing loss

2007 ◽  
Vol 143A (14) ◽  
pp. 1599-1604 ◽  
Author(s):  
Michael S. Hildebrand ◽  
David Coman ◽  
Tao Yang ◽  
R.J. McKinlay Gardner ◽  
Elizabeth Rose ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

scholarly journals A novel splice site mutation in EYA4 causes DFNA10 hearing loss (Am J Med Genet 143(14): 1599–1604)

2008 ◽  
Vol 146A (8) ◽  
pp. 1099-1099 ◽  
Author(s):  
Michael S. Hildebrand ◽  
D. Coman ◽  
T. Yang ◽  
R.J. Gardner ◽  
E. Rose ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene

2005 ◽  
Vol 199 (1-2) ◽  
pp. 22-30 ◽  
Author(s):  
Jiann-Jou Yang ◽  
Chin-Chu Tsai ◽  
Hsiu-Mei Hsu ◽  
Jiun-Yih Shiao ◽  
Ching-Chyuan Su ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Enlarged Vestibular Aqueduct ◽  
Mondini Dysplasia ◽  
Vestibular Aqueduct ◽  
Pds Gene
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