Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in
5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric …

The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

We are in a phase of unprecedented progress in identifying genetic loci that cause variation
in traits ranging from growth and fitness in simple organisms to disease in humans …

Hirschsprung disease is defined by the absence of enteric neurons at the end of the bowel.
The enteric nervous system (ENS) is the intrinsic nervous system of the bowel and regulates …

Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

More than 1,000 susceptibility loci have been identified through genome-wide association
studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of …

Background Hirschsprung's disease, or congenital aganglionosis, is a developmental
disorder of the enteric nervous system and is the most common cause of intestinal …

Male sex is a strong risk factor for autism spectrum disorder (ASD). The leading theory for a"
female protective effect"(FPE) envisions males and females have" differing thresholds" …

SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group
box-containing (SOX) proteins, most of which contribute to cell type specification and …

Autism, like intellectual disability, represents the severe end of a continuous distribution of
developmental impairments that occur in nature, that are highly inherited, and that are …