RMRP and cartilage-hair hypoplasia: It is of interest that most of the variants detected in this study were related to CHH, indicating that there is a significant phenotypic and genetic overlap between CHH and CPHD that has also been observed in other studies [66], further supporting the notion that CPHD and CHH share common genetic background [66] and allowing us to speculate that a synergistic action of these gene variants may underlie our patient’s phenotype.