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In the index patient (IV-8) of this MCKD family, the MUC1 -VNTR single cytosine insertion was detected in 7/96 clones in the first screening [Figure 2]c.
Several MCKD families with autosomal-dominant transmission have been reported; however, the specific clinical presentation has not yet reached recognition.
According to the UCy, although MCKD is a rare disease, it has been traced in villages of the Paphos district at a "considerably higher incidence" than normal.
A triad of diseases has been fully linked to UMOD gene mutations, namely MCKD type 2, FJHN, and glomerulocystic kidney disease.
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.