Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23407
Abstract: Silver‐Russell syndrome (SRS) is a heterogeneous imprinting disorder featuring severe intrauterine and postnatal growth retardation and dysmorphic features. Pendred syndrome (PDS) is an autosomal recessive disorder caused by mutations in the SLC26A4 gene characterized by… read more here.
Keywords: pendred syndrome; russell syndrome; silver russell; upd chromosome ... See more keywords
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02311-1
Abstract: Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a transmembrane exchanger of anions and bases. The mutant SLC26A4 phenotype is characterized by… read more here.
Keywords: genetic architecture; slc26a4; hearing loss; pendred syndrome ... See more keywords
A knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation.
Sign Up to like & getrecommendations! Published in 2019 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2019.05.157
Abstract: SLC26A4 gene mutations lead to Pendred syndrome and non-syndromic hearing loss (DFNB4). The mouse model is well used to study the pathology of Pendred syndrome, however, mice with different Slc26a4 mutations exhibit different phenotypes, and… read more here.
Keywords: pendred syndrome; slc26a4; mouse model; mouse ... See more keywords
SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000030253
Abstract: Rationale: Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, inner ear malformations, goiter, and abnormal organification of iodide. It is caused by mutations in SLC26A4 gene, which encodes pendrin (a transporter… read more here.
Keywords: hypokalemia; case; pendred syndrome; syndrome hypokalemia ... See more keywords
Case of delayed presentation of Pendred syndrome with a large goitre causing a life-threatening airway obstruction
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-250990
Abstract: © BMJ Publishing Group Limited 2022. No commercial reuse. See rights and permissions. Published by BMJ. DESCRIPTION A woman in her 70s with a history of severe bilateral hearing loss since childhood and impaired language… read more here.
Keywords: large goitre; hearing loss; case; obstruction ... See more keywords
Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.1077878
Abstract: The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the ion transport of chloride (Cl-), iodide (I-) or bicarbonate (HCO3-). Mutations in the SLC26A4 gene alter the structure and (or) function of… read more here.
Keywords: bronchiectasis; slc26a4 gene; case report; case ... See more keywords