Inherited intragenic PBX1 deletion: Expanding the phenotype

• Published in: American journal of medical genetics. Part A Vol. 185; no. 1; pp. 234 - 237
• Main Authors: Fitzgerald, Kristi K, Powell-Hamilton, Nina, Shillingford, Amanda J, Robinson, Bradley, Gripp, Karen W
• Format: Report
• Language: English
• Published: 01.01.2021

PBX1 encodes the pre-B cell leukemia homeobox transcription factor, a three amino acid loop extension (TALE) homeodomain transcription factor, which forms nuclear complexes with other TALE class homeodomain proteins that ultimately regulate target genes controlling organ patterning during embryogene...