Search results
4 de may. de 2017 · To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) and intellectual disability (OGID). We identified a causal mutation in 1 of 14 genes in 50% (353/710).
4 de may. de 2017 · To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) and intellectual disability (OGID).
31 de may. de 2024 · Overgrowth–intellectual disability (OGID) disorders are a group of NDDs, broadly defined as having overgrowth and some degree of intellectual disability, but with a range of other disorder-specific features.
30 de oct. de 2020 · Another autosomal dominant overgrowth and intellectual disability (OGID) syndrome, similar to Sotos and Weaver syndromes, is a DNMT3A-related overgrowth syndrome, also known as Tatton–Brown–Rahman syndrome (OMIM 615879). It is caused by pathogenic variants in DNA methyltransferase 3A.
11 de abr. de 2019 · EED-related overgrowth is characterized by fetal or early childhood overgrowth (tall stature, macrocephaly, large hands and feet, and advanced bone age) and intellectual disability that ranges from mild to severe. To date, EED-related overgrowth has been reported in eight individuals.
31 de may. de 2024 · Here, we summarize the OGID syndromes represented by the OSA, the prevalence of seizures in these disorders, and efforts by the OSA to tackle the most pressing needs of the overgrowth community. We also present the steps patient organizations can take in pursuit of developing treatments.
However, the mutation spectra of genes involved in OGID and cancer differ, suggesting complex genotype-pheno-type relationships. These data reveal insights into the genetic control of human growth and demonstrate that exome sequencing in OGID has a high diagnostic yield. Introduction Human growth control, at the organismal and cellular
