FGF21, fibroblast growth factor 21, 26291

N. diseases: 236; N. variants: 2
Disease: Cartilage-hair hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.010 Biomarker disease BEFREE We thus hypothesized that the metabolic FGF21/KLB/FGFR1 pathway is involved in CHH Genetic screening of 334 CHH patients identified seven heterozygous loss-of-function <i>KLB</i> mutations in 13 patients (4%). 28754744 2017