Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss
K Honda, AJ Griffith - Human genetics, 2022 - Springer
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …
[引用][C] SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations
ND Rendtorff, I Schrijver, M Lodahl… - Clinical …, 2013 - Wiley Online Library
Pendred syndrome (PDS) is characterized by recessive congenital/pre-lingual sensorineural
hearing impairment (HI), variable vestibular dysfunction, temporal bone abnormalities, and …
hearing impairment (HI), variable vestibular dysfunction, temporal bone abnormalities, and …
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis
Pendred's syndrome (PDS) is an autosomal-recessive disorder characterized by
sensorineural hearing loss and goiter. PDS is caused by mutations of the SLC26A4 gene …
sensorineural hearing loss and goiter. PDS is caused by mutations of the SLC26A4 gene …
Genotype–phenotype correlations for SLC26A4-related deafness
H Azaiez, T Yang, S Prasad, JL Sorensen… - Human genetics, 2007 - Springer
Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (EVA) are two
recessive disorders characterized by the association of sensorineural hearing loss (SNHL) …
recessive disorders characterized by the association of sensorineural hearing loss (SNHL) …
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 …
A Pera, M Villamar, A Vinuela, M Gandía… - European Journal of …, 2008 - nature.com
Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with
enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 …
enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 …
Heterogeneity in the processing defect of SLC26A4 mutants
JS Yoon, HJ Park, SY Yoo, W Namkung… - Journal of medical …, 2008 - jmg.bmj.com
Background: Mutations in the SLC26A4 gene are responsible for Pendred syndrome and
non-syndromic hearing loss (DFNB4). This study analysed non-synonymous SLC26A4 …
non-syndromic hearing loss (DFNB4). This study analysed non-synonymous SLC26A4 …
Hypo‐Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype‐phenotype correlation or …
BY Choi, AK Stewart, AC Madeo, SP Pryor… - Human …, 2009 - Wiley Online Library
Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum
H Hu, L Wu, Y Feng, Q Pan, Z Long, J Li… - Journal of Human …, 2007 - nature.com
It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness
characterized by congenital sensorineural hearing impairment and goitre (Pendred's …
characterized by congenital sensorineural hearing impairment and goitre (Pendred's …
Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition
Mutations in human SLC26A4 are a common cause of hearing loss associated with
enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger …
enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger …
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