Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD

"Nature versus nurture" and incompletely penetrant mutations.

Waardenburg Syndrome: Description of two novel mutations in the PAX3 gene, one of which incompletely penetrant

We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c...

Nedd9 restrains renal cystogenesis in Pkd1-/- mice.

Mutations inactivating the cilia-localized Pkd1 protein result in autosomal dominant polycystic kidney disease (ADPKD), a serious inherited syndrome affecting ∼ 1 in 500 people, in which accumulation of renal cysts eventually destroys kidney function. Severity of ADPKD varies throughout the population, for reasons thought to involve differences both in intragenic Pkd1 mutations and in modifier ...

Ultrasonography Lesson Renal cystic disease (ADPKD and ARPKD)

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and is often encountered in the work-up of renal patients. The diagnosis is obvious in advanced stages, but may be very difficult in young individuals in whom the need to provide a correct diagnosis is particularly pressing. By ultrasonography cysts are round or oval, echolucent, thin-walled, clea...

orofacial manifestations of neurological diseases

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