A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72‐ALS
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DOI: 10.1002/mds.28334
Abstract: The ataxin‐2 (ATXN2) gene contains a cytosine‐adenine‐guanine repeat sequence ranging from 13 to 31 repeats, but when surpassing certain thresholds causes neurodegeneration. Genetic alterations in ATXN2 other than pathological cytosine adenine guanine (CAG) repeats are… read more here.
Keywords: novel duplication; spinocerebellar ataxia; modifier spinocerebellar; duplication atxn2 ... See more keywords
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects
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DOI: 10.1038/s41431-020-0662-4
Abstract: Specific activating missense HRAS variants cause Costello syndrome (CS), a RASopathy with recognizable facial features. The majority of these dominant disease causing variants affect the glycine residues in position 12 or 13. A clinically suspected… read more here.
Keywords: novel duplication; 186 206dup; duplication hras; hras 186 ... See more keywords
Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2
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DOI: 10.1515/jpem-2018-0266
Abstract: Abstract Background Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder caused by CYP19A1 overexpression. Clinical manifestations of AEXS include pre- or peri-pubertal gynecomastia, advanced bone age and compromised adult height. Case presentation Here… read more here.
Keywords: novel duplication; duplication; excess syndrome; boy ... See more keywords