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Loss of facial expression
- ... in these individuals include recurrent seizures (epilepsy), characteristic ... expression and disrupts proper neural development. However, the specific ...
- ... a disorder that causes urinary problems and unusual facial expressions. These mutations result in changes in the heparanase ... Because the areas of the brain that control facial expression and urination are in close proximity, some researchers ...
- ... BRM insertion promoter sequence variants are associated with loss of BRM expression and lung cancer risk. Oncogene. 2011 Jul 21; ...
- ... lead to the nerve problems that cause hearing loss, muscle weakness in the face and limbs, and breathing problems in people with ...
- ... deafness-hand syndrome, a condition characterized by distinctive facial features, profound hearing loss, and abnormalities of the hand muscles that can ...
- ... gene in each cell. Studies suggest that the loss of this gene may contribute to some of the characteristic features of Williams syndrome, including the distinctive facial features, personality characteristics such as sociability, and problems ...
- ... functional SETBP1 protein. It is unclear how the loss of SETBP1 protein leads to the specific features of SETBP1 disorder. A shortage of this protein probably impairs the expression of certain genes in the brain, disrupting development. ...
- ... of RAI1 protein in cells, which disrupts the expression of genes involved in circadian rhythms. These changes may account for the sleep disturbances that occur with Smith-Magenis syndrome. It is unclear how a loss of one copy of the RAI1 gene leads ...
- ... development of several parts of the body. A loss of SAP49 may also impair BMP pathway signaling, leading to abnormal development of bones in the face, hands, and arms. More About This Health Condition ...
- ... production of any transcription factor AP-2β. A loss of this protein's function disrupts the normal development of structures derived from the neural crest, including the heart and facial features. Abnormal development of these tissues leads to ...