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Keywords: Pendred syndrome
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Journal Articles

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

Available to Purchase
Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Tayfun Cinleti, Ceren Yılmaz Uzman, Şefika Akyol, Özlem Tüfekçi, Murat Derya Erçal, Özlem Giray Bozkaya
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (3): 200–205.
https://doi.org/10.1159/000519364
Published Online: 12 January 2022
... a heterozygous pathogenic variant in the LBR gene and a homozygous likely pathogenic variant in the SLC26A4 gene. Due to these 2 variants, he was diagnosed with PHA and DFNB4 with EVA. If goiter develops, DFNB4 with EVA is named Pendred syndrome (PDS), so the patient will be followed up for this condition...
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