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Autosomal dominant Robinow syndrome 2
Did you mean Autosomal dominant robinson syndrome 2?
- ... 1; RRS1 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 PubMed ...
- ... frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j. ...
- ... Gene ClinVar Afzal AR, Jeffery S. One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. Hum Mutat. 2003 Jul;22( ...
- ... the FZD2 gene have been found to cause autosomal dominant Robinow syndrome, a condition that affects the development of many ... believe that it actually represents a subtype of autosomal dominant Robinow syndrome.Three of the known mutations change a single ...
- ... a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 3;98( ...
- ... not seen in classic cases of Saethre-Chotzen syndrome. Researchers believe that a loss of other genes on chromosome 7 may be responsible for these additional features. TWIST1 chromosome 7 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
