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Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

✍ Scribed by H Blons; D Feldmann; V Duval; O Messaz; F Denoyelle; N Loundon; A Sergout-Allaoui; M Houang; F Duriez; D Lacombe; B Delobel; J Leman; H Catros; H Journel; V Drouin-Garraud; M-F Obstoy; A Toutain; S Oden; JE Toublanc; R Couderc; C Petit; E-N Garabédian; S Marlin


Book ID
110887920
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
123 KB
Volume
66
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,