TY  - GEN
AU  - Ben Said,Mariem
AU  - Dhouib,Houria
AU  - BenZina,Zeineb
AU  - Ghorbel,Abdelmoneem
AU  - Moreno,Felipe
AU  - Masmoudi,Saber
AU  - Ayadi,Hammadi
AU  - Hmani-Aifa,Mounira
TI  - Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome
SN  - 1872-8464
PY  - 2012///1017
KW  - Adult
KW  - Child
KW  - Connexin 26
KW  - Connexins
KW  - genetics
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - methods
KW  - Genotype
KW  - Goiter, Nodular
KW  - diagnosis
KW  - Hearing Loss, Sensorineural
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Membrane Transport Proteins
KW  - Mutation
KW  - Pedigree
KW  - Polymorphism, Genetic
KW  - Sulfate Transporters
KW  - Tunisia
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ijporl.2012.02.053
ER  -