Pendred Syndrome
What's New
Last Posted: Nov 29, 2024
- Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct.
Boxiang Zhuang, et al. The Laryngoscope 2024 0 - Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
Wanna Chetruengchai et al. BMC Med Genomics 2024 17(1) 9 - Analysis of clinical characteristics of thyroid phenotype in Pendred syndrome based on multiple databases.
Y-L Li, et al. European review for medical and pharmacological sciences 2023 0 (12) 5390-5396 - Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia).
Valeriia Yu Danilchenko, et al. Genes 2023 0 (4) - Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct.
Lin Yin-Hung, et al. The Journal of molecular diagnostics : JMD 2018 0 (1) 138-148 - Comprehensive analysis of syndromic hearing loss patients in Japan.
Ideura Michie, et al. Scientific reports 2019 0 (1) 11976 - The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct.
Mey Kristianna, et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019 0 (3) e178-e185 - Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features.
Forli F, et al. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2020 0 (7) 2305-2312 - Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts.
Nakano Atsuko, et al. International journal of pediatric otorhinolaryngology 2021 0 110975 - Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
Tesolin Paola, et al. Genes 2021 0 (10)
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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