Publications by authors named "Janet M Berg"
The RAS/mitogen-activated protein kinase pathway plays a significant role in cell cycle regulation. Germline mutation of this pathway leads to overlapping genetic disorders, RASopathies, and is also an important component of tumorigenesis. Here we describe a rare case of myelodysplastic syndrome with monosomy 7 in a pediatric patient with a germline RRAS mutation.
View Article and Find Full Text PDFNephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation.
J Pediatr Endocrinol Metab
September 2019
Article Synopsis
- Nephrogenic diabetes insipidus (NDI) is a rare genetic disorder that affects kidney function by impairing water reabsorption, often due to mutations in vasopressin receptors or aquaporin channels.
- A case study focuses on a 15-year-old girl diagnosed with NDI following severe gastroenteritis and fluid treatment, leading to persistent vomiting.
- Genetic testing identified unique mutations in the AQP2 gene, marking it as a novel discovery in a patient diagnosed at an unusual age for this condition.