Disease: Ectrodactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.010 GeneticVariation disease BEFREE Sequencing showed a CGT-->TGT missense mutation (R280C) in exon 7, previously reported to cause EEC in four families, and ectrodactyly alone (split hand-foot malformation) in one sporadic case and one large kindred. 15324320 2004