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2014 | 1 |
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Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family.
Am J Med Genet A. 2011 Apr;155A(4):924-7. doi: 10.1002/ajmg.a.33740. Epub 2011 Mar 17.
Am J Med Genet A. 2011.
PMID: 21416585
No abstract available.
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
Ladsous M, Vlaeminck-Guillem V, Dumur V, Vincent C, Dubrulle F, Dhaenens CM, Wémeau JL.
Ladsous M, et al.
Thyroid. 2014 Apr;24(4):639-48. doi: 10.1089/thy.2013.0164. Epub 2014 Jan 20.
Thyroid. 2014.
PMID: 24224479
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