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Results 1 - 8 of 8 for Autosomal dominant nonsyndromic hearing loss 24
  1. ... Tests of TBC1D24 PubMed TBC1 DOMAIN FAMILY, MEMBER 24; TBC1D24 NCBI Gene ClinVar Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul;35(7):819-23. ...
  2. ... For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified.The characteristics of nonsyndromic hearing ... 30 genes have been identified in people with autosomal dominant nonsyndromic hearing loss; mutations in some of these genes (including GJB2 ...
  3. ... in this gene can cause two forms of nonsyndromic hearing loss: DFNA13 and DFNB53.DFNA13 is inherited in an autosomal dominant pattern, which means only one mutated copy of ...
  4. ... Kunst HP, Hoefsloot EH, Cruysberg JR, Cremers CW. Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. Mol ...
  5. ... gov STICKLER SYNDROME, TYPE I; STL1 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA STICKLER SYNDROME, TYPE II; STL2 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR STICKLER SYNDROME, TYPE V; STL5 STICKLER SYNDROME, ...
  6. ... pheochromocytoma. KIF1B RET SDHA SDHB SDHD TMEM127 VHL Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered ...
  7. ... should. FGFR3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. FGFR3-associated coronal synostosis Muenke nonsyndromic coronal craniosynostosis Genetic Testing Registry: Muenke syndrome Muenke ...
  8. ... This Health Condition MedlinePlus Genetics provides information about Nonsyndromic hearing loss More About This Health Condition At least 76 ...