... whether DSPP gene mutations are related to the hearing loss found in a few older individuals with dentinogenesis imperfecta type II. DSPP This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...

... slightly short stature, myopia, cataracts, joint pain, and hearing loss.In at least one case of fibrochondrogenesis caused by a COL11A2 gene mutation, the condition was inherited in an autosomal dominant pattern, which means one copy of the altered ...

... body. SPTLC1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ... each cell is sufficient to cause the disorder. Autosomal dominant hereditary sensory radicular neuropathy, type 1A Hereditary sensory ...

... 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 ...

... spastic paraplegia type 7 is inherited in an autosomal dominant pattern, which means one copy of the altered ... Rare Disorders (NORD) ClinicalTrials.gov ... stress in hereditary spastic paraplegia. J Cell Biol. 2003 Nov 24;163(4):777-87. doi: 10.1083/jcb.200304112. Epub 2003 Nov ...

... 18q deletion syndrome is considered to be an autosomal dominant condition, which means one copy of the deleted ...

... unknown. TGFB1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...

... properly. COL2A1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...

... the KMT2D gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...

... conditions. SALL4 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...