Nearly everyone — with rare exceptions — is born with 23 pairs of chromosomes that were passed down from parents through combinations of their 46 chromosomes. X and Y, the two most popularly known ...

Critical Path Institute (C-Path) is thrilled to announce its Polycystic Kidney Disease Outcomes Consortium (PKDOC) has been awarded an Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) ...

In familial Beckwith-Wiedemann syndrome (BWS), the mode of inheritance is uncertain and possible patterns include autosomal dominant, multifactorial and autosomal dominant sex-dependent inheritance.

Panel A shows the clinical characteristics and treatments for all six unrelated patients with autosomal dominant hypocalcemia type 1 (ADH1) who received continuous subcutaneous parathyroid hormone ...

Recent proteomic studies have offered glimpses into the biology of early Alzheimer’s disease. Two new preprints take this approach further, describing high-throughput surveys that turned up numerous ...

The blueprint of who we are begins with the genes passed down from our parents. While these inherited traits give us our eye color and height, they can also contain instructions that increase our risk ...

Liver cysts were found in over 80% of patients with ADPKD but were not associated with chronic kidney disease stage, Mayo classification, PKD1 or PKD2 genotype variant, liver enzyme levels, or quality ...