RIEG2, Rieger syndrome 2, 6012

N. diseases: 38; N. variants: 0
Disease: Keratoderma, Palmoplantar ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.010 GeneticVariation disease BEFREE We report here a Tunisian family with three siblings presenting with recessive transgressive PPK closely resembling the MDM phenotype that excludes linkage to the ARS gene. 16865292 2006