PSS, Potocki-Shaffer syndrome, 780904

N. diseases: 66; N. variants: 0
Disease: Knuckle pads ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0264000
Disease: Knuckle pads
Knuckle pads 		0.010 GeneticVariation disease BEFREE Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (PLACK syndrome, OMIM616295) is a newly described form of PSS with an autosomal recessive mode of inheritance. 31392520 2019