In addition, the identification of the PALB2 pathogenic variant could also have future therapeutic implications for this patient since this gene is a member of the homologous recombination pathway, and its inactivation is known to confer impaired double strand break repair, a phenotype known as Homologous Recombination deficiency (HRD) (O'Kane, Connor, & Gallinger, 2017). Here, PALB2 is linked to hypoparathyroidism-retardation-dysmorphism syndrome.