FGFR1 and cartilage-hair hypoplasia: Conversely, several CHH-associated genes such as <i>FGFR1</i> and <i>FGF8</i>, already implicated in CPHD, were also identified in patients with CPHD and syndromic GN deficiency, further supporting a shared genetic architecture between CHH and CPHD.<h4>Large scale data</h4>N/A.<h4>Limitations reasons for caution</h4>Non-coding and copy number variants were not studied.