Publications by authors named "Rosa Martinez-Salazar"
Article Synopsis
- DICER1 syndrome is a genetic disorder linked to mutations in the DICER1 gene, often leading to severe pituitary tumors and neonatal Cushing's disease.
- A study involving 192 cases of Cushing's disease tested for genetic variants using advanced sequencing techniques, revealing rare germline mutations in some pediatric patients.
- The results indicate that DICER1 gene variants might play a role in the development of certain corticotropinomas, but more research is needed to determine their exact impact on the disease.
Background: Mutations in () have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described. Variable penetrance and intrafamilial variability have been demonstrated including severe prenatal phenotypes.
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