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Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.
Int J Pediatr Otorhinolaryngol. 2021 Jun;145:110715. doi: 10.1016/j.ijporl.2021.110715. Epub 2021 Apr 20.
Int J Pediatr Otorhinolaryngol. 2021.
PMID: 33892339
Review.
BACKGROUND: Biallelic mutations in LOXHD1 have been identified as the cause of DFNB77 (deafness, autosomal recessive 77). It is a new progressive, severe-to-profound, and late-onset nonsyndromic sensorineural hearing loss (NSHL), and is highly h …
BACKGROUND: Biallelic mutations in LOXHD1 have been identified as the cause of DFNB77 (deafness, autosomal recessive 77). It i …
[Enlarged vestibular aqueduct syndrome-dehiscence syndromes-honeycomb mastoid : Pathophysiology and evidence for clinical differentiation].
Westhofen M.
Westhofen M.
HNO. 2020 May;68(5):336-343. doi: 10.1007/s00106-020-00837-w.
HNO. 2020.
PMID: 32347381
Review.
German.
BACKGROUND: Differential diagnosis of dizziness with hearing loss requires standardized procedures for detection and classification of rare congenital and acquired malformations of the petrous part of the temporal bone. ...
BACKGROUND: Differential diagnosis of dizziness with hearing loss requires standardized procedures for detection and classific …
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