CRLF1, cytokine receptor like factor 1, 9244

N. diseases: 97; N. variants: 25
Disease: Anhidrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		0.010 GeneticVariation disease BEFREE However, we show in this series of 12 patients from four families, all previously unpublished, that the homogeneity of the recently described c.983dupG (p.Ser328Argfs∗2) mutation in CRLF1 was associated with a highly variable degree of severity, and that the phenotype significantly overlaps with the recently described COG6-related anhidrosis syndrome (MIM#615328). 26804344 2016