RFLNA, refilin A, 144347

N. diseases: 19; N. variants: 16
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848934
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 		0.010 GeneticVariation disease BEFREE We herein report the case of a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome who had a homozygous frameshift mutation in the refilin A gene (RFLNA) [c.241delC, p.(Leu81Cysfs*111)], which encodes one of the filamin-binding proteins. 30796325 2019