Global developmental delay

Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Methods: Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play.

20p vioraclene 31-03-2024 4 2   Download

Say–Barber–Biesecker–Young–Simpson (SBBYS) (OMIM #603736, Ohdo syndrome variant) is a rare type of severe blepharophimosis intellectual disability syndrome, which is generally characterized by a global developmental delay, distinctive facial features, and intellectual disability with multiple congenital anomalies, including skeletal involvement, missing, or underdeveloped kneecaps, and genital anomalies, in affected males.

7p vitiki 30-01-2024 4 2   Download

Part 2 book "Algorithms in pediatrics" includes content: Systemic hypertension, management of lower gastrointestinal bleed, acute liver failure, corrosive injury in children, chronic abdominal pain, approach to global developmental delay, acute flaccid paralysis, approach to a child with spastic paraplegia, acute glomerulonephritis, acute kidney injury, nephrotic syndrome in children,...and other contents.

464p oursky03 28-08-2023 5 1   Download

Although several determinants of global developmental delay (GDD) have been recognized, a significant number of children remain without definitive etiologic diagnosis. The objective of this study was to assess the effect of various prenatal and perinatal factors on the severity and outcome of developmental delay without definitive etiologic yield.

7p vinatri2711 29-02-2020 8 0   Download