Autosomal dominant nonsyndromic hearing loss 52

MedGen UID:: 334357
•Concept ID:: C1843232
•: Disease or Syndrome

Synonyms:

Deafness, Autosomal Dominant 52; DFNA52

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Hereditary hearing loss and deafness
- Nonsyndromic genetic hearing loss
  - Autosomal dominant nonsyndromic hearing loss
    - Autosomal dominant nonsyndromic hearing loss 52

Recent clinical studies

Diagnosis

Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS.

Kim YR, Kim HM, Lee B, Baek JI, Lee KY, Park HJ, Kim UK
Genes Genomics 2023 Feb;45(2):225-230. Epub 2023 Jan 11 doi: 10.1007/s13258-022-01357-3. PMID: 36630074

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A
Genes (Basel) 2021 Aug 20;12(8) doi: 10.3390/genes12081277. PMID: 34440452 Free PMC Article

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Autosomal dominant nonsyndromic hearing loss 52

Term Hierarchy

Recent clinical studies

Diagnosis

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Reviews

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