RSPO4, R-spondin 4, 343637

N. diseases: 7; N. variants: 10
Disease: XX males ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432475
Disease: XX males
XX males 		0.010 GeneticVariation disease BEFREE Germline RSPO4 and RSPO1 mutations result in recessive anonychia (absence of all fingernails and toenails) and a recessive syndrome with XX-male sex reversal, PPK and a predisposition to SCC, respectively. 17426450 2007