Article
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
American journal of medical genetics. Part A - 1 May 2020
Arts Peer, Garland Jessica, Byrne Alicia B, Hardy Tristan S E, Babic Milena, Feng Jinghua, Wang Paul, Ha Thuong, King-Smith Sarah L, Schreiber Andreas W, Crawford April, Manton Nick, Moore Lynette, Barnett Christopher P, Scott Hamish S
Abstract excerpt
Autosomal dominant (de novo) mutations in PBX1 are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT), with or without extra-renal abnormalities. Using trio exome sequencing, we identified a PBX1 p.(Arg107Trp) mutation in a deceased one-day-old neonate presenting with CAKUT, asplenia, and severe bilateral diaphragmatic thinning and eventration. Further investigation by droplet digital...
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