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SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

✍ Scribed by Rendtorff, ND; Schrijver, I; Lodahl, M; Rodriguez-Paris, J; Johnsen, T; Hansén, EC; Nickelsen, LAA; Tümer, Z; Fagerheim, T; Wetke, R; Tranebjaerg, L


Book ID
120620402
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
497 KB
Volume
84
Category
Article
ISSN
0009-9163

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Pendred syndrome, DFNB4, and PDS/SLC26A4
✍ Colleen Campbell; Robert A. Cucci; Sai Prasad; Glenn E. Green; J. Bradley Edeal; 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 254 KB

Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two autosomal recessive disorders that share hearing loss as a common feature. The hearing loss is associated with temporal bone abnormalities, ranging from isolated enlargement of the vestibular aqueduct (dilated vestibular aqueduct,