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- Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in ...
- Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only ...
- ... NOTCH1 gene have been found to cause Adams-Oliver syndrome, a condition characterized by areas of missing ... of the NOTCH1 gene mutations involved in Adams-Oliver syndrome lead to production of an abnormally short ...
- ... gene have been found in individuals with Adams-Oliver syndrome. This condition is characterized by areas of ... how it leads to the features of Adams-Oliver syndrome. More About This Health Condition AER61 AER61 ...
- ... cells. Mutations in the DOCK6 gene cause Adams-Oliver syndrome, a condition characterized by areas of missing ... disability, are more common in DOCK6-related Adams-Oliver syndrome than in cases associated with other genes. ...
- ... mutations have been found in people with Adams-Oliver syndrome, a condition characterized by areas of missing ... underlie blood vessel abnormalities in people with Adams-Oliver syndrome; however, some people with DLL4-related Adams- ...
- ... Mutations in the RBPJ gene lead to Adams-Oliver syndrome, a condition characterized by areas of missing ... mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012 Aug 10; ...
- ... the ARHGAP31 gene are known to cause Adams-Oliver syndrome, a condition characterized by areas of missing ... reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. Am J Med Genet ...
- ... W, Solnica-Krezel L, Jeong Y, Epstein DJ, Oliver G. Haploinsufficiency of Six3 fails to activate Sonic ... Yocum A, Dubourg C, Li X, Geng X, Oliver G, Epstein DJ. Regulation of a remote Shh ...
- ... Rao S, Ji Y, Mateo C, Libutti SK, Oliver B, Chandrasekharappa SC, Burns AL, Collins FS, Spiegel ... Cerrato A, Parisi MJ, Santa Anna-A S, Oliver B, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx ...