Journal article

A case series of x-linked deafness-2 with sensorineural hearing loss, stapes fixation, and perilymphatic gusher: MR imaging and clinical features of hypothalamic malformations

Abstract:: X-linked deafness-2 (DFNX2) is an X-linked recessive disorder characterized by profound sensorineural hearing loss and a pathognomonic temporal bone deformity. Because hypothalamic malformations associated with DFNX2 have been rarely described, we aimed to further describe these lesions and compare them with features of a nonaffected population. All patients diagnosed with DFNX2 between 2006 and 2019 were included and compared with age-matched patients with normal MR imaging findings and with...
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Publication status:: Published

Peer review status:: Peer reviewed

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APA Style

Prat-Matifoll, J. A., Wilson, M., Goetti, R., & Prats-Uribe, A. (2020). A case series of x-linked deafness-2 with sensorineural hearing loss, stapes fixation, and perilymphatic gusher: MR imaging and clinical features of hypothalamic malformations. American Journal of Neuroradiology, 41(6), 1087–1093.

MLA Style

Prat-Matifoll, J. A., et al. “A Case Series of x-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.” American Journal of Neuroradiology, vol. 41, no. 6, American Society of Neuroradiology, 2020, pp. 1087–93.

Chicago Style

Prat-Matifoll, JA, M Wilson, R Goetti, and A Prats-Uribe. 2020. “A Case Series of x-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.” American Journal of Neuroradiology 41 (6): 1087–93.
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Publisher copy:: 10.3174/ajnr.A6541

Authors

+ Prat-Matifoll, JA More by this author

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Author

+ Wilson, M More by this author

Role:

Author, Author

+ Goetti, R More by this author

Role:

Author

+ Prats-Uribe, A More by this author

Institution:

University of Oxford

Division:

MSD

Department:

NDM

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Author

Bibliographic Details

Publisher:: American Society of Neuroradiology
Journal:: American Journal of Neuroradiology More from this journal
Volume:: 41
Issue:: 6
Pages:: 1087-1093
Publication date:: 2020-06-10
Acceptance date:: 2020-02-20
DOI:: 10.3174/ajnr.A6541
EISSN:: 1936-959X
ISSN:: 0195-6108

Item Description

Language:: English
Keywords:: FFR
Pubs id:: 1088716
Local pid:: pubs:1088716
Deposit date:: 2020-02-24

Terms of use

Copyright holder:: American Journal of Neuroradiology
Copyright date:: 2020
Rights statement:: © 2020 by American Journal of Neuroradiology

Licence:: Terms and Conditions of Use for Oxford University Research Archive

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