Polyglandular Deficiency Syndrome, Persian-Jewish Type
National Institutes of Health
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An estimated 1:40 individuals of Ashkenazi Jewish (AJ) ancestry carry one of three common founder mutations in BRCA1 or BRCA2…
Crohn's disease (CD) is a complex disorder resulting from the interaction of intestinal microbiota with the host immune system in…
BackgroundCrohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non…
A single nucleotide polymorphism (rs7341475) in RELN has recently been shown to be associated with schizophrenia (SZ) in an…
Until last year, type 2 diabetes (T2D) susceptibility loci have hardly been identified, despite great effort. Recently, however…
There is compelling evidence that genetic factors play an important role in prostate cancer, but no unequivocally disease causing…
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy that occurs almost exclusively in the Ashkenazi Jewish…
Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid metabolism. We noted that a…
The DYT1 gene on human chromosome 9q34 appears to be responsible for most cases of early onset primary torsion dystonia (PTD…