Article

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis

2024-10-23

Abstract excerpt

<title>Abstract</title> <p> There have been several reports on heterozygous loss of function variants in <italic>PBX1</italic> associated with congenital anomalies of the kidney and urinary tract (CAKUT). We report three patients harboring de novo heterozygous missense variants in <italic>PBX1</italic> , who did not have CAKUT, but instead presented with respiratory failure, developmental delay, and, the mos...

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Literature Corpus work: 5f789d3e-8aea-5f96-adfc-0000c7f35ad7
DOI: 10.21203/rs.3.rs-5211072/v1

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