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Hace 15 horas · Specifically mutating the neurofibromatosis type 1 gene (NF1) in oligodendrocyte precursor cells (OPCs) impairs their adaptive response to neuronal activity and their differentiation into mature ...
26 de may. de 2024 · One gene found this way is DZIP1, which regulates cardiac valve development in mammals through a CBY1 -beta-catenin mechanism. Mutations at this gene affect the beta-catenin cascade involved in development, causing malformation of the extracellular matrix, resulting in loss of collagen.
Hace 5 días · Definición. Un defecto congénito (también llamado defecto de nacimiento) es una alteración física o fisiológica presente en un bebé al nacer. Los defectos congénitos pueden deberse a factores genéticos, a eventos prenatales durante el embarazo o a una combinación de ambos.
Hace 3 días · Brachydactyly is a rare congenital malformation characterized by disproportionally short digits [ 1, 2 ]. This manifestation can present as an isolate defect or part of an underlying syndrome [ 1, 2 ]. Brachydactyly can coexist with other digit malformations including syndactyly, polydactyl, reduction defect, or symphalangism [ 2 ]. Depending on affected bone, there are eight main types of ...
9 de may. de 2024 · Zellweger spectrum disorder, also known as cerebrohepatorenal syndrome, is a rare inherited disorder characterized by the absence or reduction of functional peroxisomes. It is autosomal recessive due to a defect in the PEX gene. It is a rapidly progressive disorder with a high mortality rate.
Hace 5 días · No renal acid–base abnormalities were found and the administration of 1 mg of iodine failed to correct hypothyroidism. We described the first case of goitrous CH due to a homozygous mutation of the SLC26A7 gene diagnosed during late adolescence.
16 de may. de 2024 · For some birth defects, like fetal alcohol spectrum disorder, we know the cause. But for most birth defects, we don't know what causes them. We think most birth defects are caused by a complex mix of factors, including our genes, our behaviors, and our environment.
