On Dec 12, 2024, the US Food and Drug Administration (FDA) approved crinecerfont for adults and paediatric patients with ...

When a baby is born with an underactive thyroid, it is called congenital hypothyroidism . This condition causes the thyroid gland to not produce enough thyroid hormone, which eventually leads to ...

Bowel obstruction with or without ischemia may also occur. Although it is not known exactly what causes congenital diaphragmatic hernia , scientists believe that multiple genes from both parents, as ...

Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data. Am J Hum Genet, 2025; (DOI: 10.1016/j.ajhg.2025.01.024). “Our work demonstrates that genetic ...

The suspected causes of congenital heart defects vary widely. It depends on the heart defect in families, taking certain prescription drugs during pregnancy puts a child at a higher risk for a heart ...

Electroretinograms, however, are usually not detectable in Leber congenital amaurosis, and signals from a small region treated with gene therapy might be lost in noise. For this study, 7 investigators ...

"Our work demonstrates that genetic interactions, rather than single-gene causes alone, could play a significant role in congenital heart disease. By developing a method to uncover these ...

Our work demonstrates that genetic interactions, rather than single-gene causes alone, could play a significant role in congenital heart disease. By developing a method to uncover these ...

Congenital heart disease (CHD) is one of the most prevalent major birth defects, yet its causes remain largely unknown. Both genetic and environmental factors play a role. Animal and human induced ...

Get Instant Summarized Text (Gist) Simple congenital heart diseases, particularly patent foramen ovale (PFO), are linked to a higher risk of epilepsy. An analysis of 10,914 patients revealed ...