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 ...

Chromosome abnormality is the condition in a cell or organism where the number of chromosomes or the structure of any chromosome differs from the normal karyotype. When the variant genotype is not ...

Scientists have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect. Scientists at the Icahn School of Medicine at Mount Sinai and ...

The new research showed the share of infants who died from congenital anomalies rose significantly in states with abortion bans, suggesting a disproportionate rise in the number of women who are ...

The patient was found to have a rare congenital anomaly — an anomalous ... The patient’s vital signs were normal, with no abnormalities detected during examination, auscultation, palpation ...