Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.
Vito GuarnieriRaewyn M SeabergCatherine KellyM Jean DavidsonSimon RaphaelAndrew Y ShuenFilomena BaordaOrazio PalumboAlfredo ScillitaniGeoffrey N HendyDavid E C ColePublished in: BMC medical genetics (2017)
A novel gross deletion mutation in CDC73 was identified in a three-generation HPT-JT family emphasizing the importance of including screening for large deletions in the molecular diagnostic protocol.
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