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Results 1 - 10 of 20 for Hearing "loss," autosomal dominant 71
  1. ... are thought to cause two forms of nonsyndromic hearing loss: DFNA11 and DFNB2.DFNA11 is inherited in an autosomal dominant pattern, which means only one mutated copy of ...
  2. ... These include autosomal dominant osteopetrosis type 1 and autosomal dominant osteosclerosis. In some cases, these conditions can cause abnormal bone growth and related skeletal abnormalities. Rarely, affected individuals have hearing loss or circulation problems in the brain. Other people ...
  3. ... Variants in this gene can also lead to hearing loss and changes in the lens of ... dominant Alport syndrome. Individuals with this form typically have ...
  4. ... abnormal function in the inner ear, resulting in hearing loss, and changes in the ... dominant Alport syndrome. Individuals with this form typically have ...
  5. ... Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM. Autosomal dominant stapes ... noggin. Am J Hum Genet. 2002 Sep;71(3):618-24. doi: 10.1086/342067. Epub ...
  6. ... by hematuria. Alport syndrome is inherited in an autosomal dominant pattern in about 20 to 30 percent of ... COL4A3 or COL4A4 gene have progressive kidney disease (autosomal dominant Alport syndrome) and others have only hematuria (thin ...
  7. ... Paget disease of bone, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that having one copy of an ...
  8. ... helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
  9. ... of cases, craniofacial microsomia is inherited in an autosomal dominant pattern, which means one copy of an altered ... report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol. ...
  10. ... cases of oculodentodigital dysplasia are inherited in an autosomal dominant pattern, which means one copy of the altered ... on PubMed Laird DW. Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to ...
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