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Keywords: Osteochondroma
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Journal Articles

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

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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
... this anomaly. Autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct (EVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL). We report a case with SNHL, multiple skeletal anomalies including osteochondroma, developmental delay, and PHA. Molecular studies revealed...
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