Article
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
American journal of medical genetics. Part A - 1 Jun 2024
Hejla Duha, Huynh Stephanie, Samra Simran, Richmond Phillip A, Dalmann Joshua, Del Bel Kate L, Byres Loryn, Lehman Anna, Turvey Stuart E, Boerkoel Cornelius F
Abstract excerpt
Pathogenic PHF21A variation causes PHF21A-related neurodevelopmental disorders (NDDs). Although amorphic alleles, including haploinsufficiency, have been established as a disease mechanism, increasing evidence suggests that missense variants as well as frameshift variants extending the BHC80 carboxyl terminus also cause disease. Expanding on these, we report a proposita with intellectual disability and overgrowth...
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