Article
A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.
Gene - 30 Aug 2020
Siavrienė Evelina, Preikšaitienė Eglė, Maldžienė Živilė, Mikštienė Violeta, Rančelis Tautvydas, Ambrozaitytė Laima, Gueneau Lucie, Reymond Alexandre, Kučinskas Vaidutis
Abstract excerpt
Hemizygosity of the MIR17HG gene encoding the miR-17 ~ 92 cluster is associated with Feingold syndrome 2 characterized by intellectual disability, skeletal abnormalities, short stature, and microcephaly. Here, we report on a female with a de novo 13q31.3 microduplication encompassing MIR17HG but excluding GPC5. She presented developmental delay, skeletal and digital abnormalities, and features such as tall...
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