Analysis of Clinical Case of Pendred Syndrome
Zdorovʹe Rebenka, 2016 The article presents the literature review and clinical case of Pendred syndrome in a boy of 2.2 years old.
T.V. Sorokman, O.-M.V. Popeliuk
doaj +2 more sources
Pendred syndrome: Advances in diagnostics and unresolved therapeutic challenges
Problemy PielęgniarstwaPendred syndrome remains a condition characterised by numerous complexities and unresolved aspects despite significant advancements in understanding its aetiology and clinical manifestations.
Olga Domańska +4 more
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The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants [PDF]
Journal of Biomedical ScienceBackground Pathogenic sequence alterations in the SLC26A4 gene, which encodes the solute carrier SLC26A4/pendrin, lead to Pendred syndrome and non-syndromic autosomal recessive deafness type B4 (DFNB4), two of the most common forms of hearing loss ...
Florian Huber +10 more
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Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis. [PDF]
J Int Adv Otol, 2020 Establish outcomes following cochlear implantation (CI) in patients with Pendred syndrome. Systematic review and narrative synthesis. Databases searched: Medline, Pubmed, Embase, Web of Science, Cochrane Collection and ClinicalTrials.gov.
Biggs K +5 more
europepmc +2 more sources
Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards [PDF]
Global Medical Genetics, 2021 Kok-Siong Poon, Karen Mei-Ling Tan
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Neuro-otological findings in Pendred syndrome
, 2003 Pendred syndrome is an autosomal recessive inherited disorder characterized by profound hearing impairment and inappropriate iodine release by the thyroid on perchlorate challenge.
Reardon, W. +15 more
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Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand [PDF]
Scientific ReportsPrelingual sensorineural hearing loss (SNHL) represents about 80% of genetic SNHL, with at least 90 causative genes identified. In order to identify the genetic diagnosis of prelingual SNHL, we performed a prospective study by systematic history-taking ...
Tasyakorn Damrongchietanon +8 more
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Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome. [PDF]
Case Rep EndocrinolWe described new forms of thyroglobulin gene (TG) mutation resulting in fetal goiter and congenital hypothyroidism in a pendred syndrome (PS) patient. Fetal hypothyroidism was diagnosed, based on ultrasonographic evidence of goiter alongside with fetal blood measurement of TSH (>100 mIU/L); levothyroxine intrauterine treatment was performed.
Calcaterra V +9 more
europepmc +2 more sources
Investigation of GJB2 and SLC26A4 genes related to pendred syndrome genetic deafness patients [PDF]
Cellular, Molecular and Biomedical Reports, 2023 Deafness can occur due to damage to the ear, especially the inner ear. In other cases, the cause is a heterogeneous genetic abnormality and is caused by the changes that occur in the genes involved in the hearing process.
Haider Majid Haider Al-Zaidi +5 more
doaj +1 more source
Characterisation of the Pendred syndrome gene
, 2002 Pendred syndrome is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid enlargement. Phenotypic heterogeneity is observed in affected individuals particularly, with regard to the severity of thyroid dysfunction ...
Julie Patricia. Taylor (7629335)
core +6 more sources