Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)

Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)

Musculocontractural Ehlers–Danlos syndrome (EDS) caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>) is a subtype of EDS characterized by multisystem malformations and progressive fragility-related manifestations. A recent international collaborative study sh...

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Bibliographic Details
Main Authors: Masayuki Kawakita, Satoshi Iwasaki, Hideaki Moteki, Shin-ya Nishio, Tomoki Kosho, Shin-ichi Usami
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Genes
Subjects:
musculocontractural Ehlers–Danlos syndrome
mcEDS-<i>CHST14</i>
hearing loss
sensorineural
no DPOAE response
Online Access:https://www.mdpi.com/2073-4425/14/7/1350

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