Zhang et al. (2019): "Normally IH begins with a small and painless protrusion of the interdigital skin which sometimes can already be diagnosed at calf age. In the final stage clinical signs of IH are firm tumor like masses found in the interdigital space with skin lesions that can result in deep necrosis and phlegmonous inflammations."
OMIA ID:2223Inheritance: This disorder is multifactorial. As summarised by Zhang et al. (2019), "Bovin...Characterised: YesYear: 2019
Comparison of whole-genome sequence by Sartelet et al. (2014), from four affecteds and eight control Belgian Blue non-carriers, revealed three SNVs "[c2244G>C + c2248T>C + c2250C>A] located in exon 23 of the CLCN7 gene encoding the anion transport protein ClC-7". The first of these is synonymous, but the second and third jointly cause "a tyrosine to glutamine substitution (TAC>CAA: Y750Q)" in a highly conserved region of the protei...
OMIA ID:1887Inheritance: Sartelet et al. (2014) reported data consistent with autosomal recessive inhe...Characterised: YesYear: 2014
