Article
Mosaicism in ASXL3-related syndrome: Description of five patients from three families.
European journal of medical genetics - 1 Jun 2020
Schirwani Schaida, Hauser Natalie, Platt Anna, Punj Sumit, Prescott Katrina, Canham Natalie, Study D D D, Mansour Sahar, Balasubramanian Meena
Abstract excerpt
De novo pathogenic variants in the additional sex combs-like 3 (ASXL3) gene cause a rare multi-systemic neurodevelopmental disorder. There is growing evidence that germline and somatic mosaicism are more common and play a greater role in genetic disorders than previously acknowledged. There is one previous report of ASXL3-related syndrome caused by de novo pathogenic variants in two siblings suggesting gonadal...
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