Małgorzata Blaska
Biographic Data
| ID | 8255305 |
|---|---|
| NAME | Małgorzata Blaska |
| GIVEN NAMES | Małgorzata |
| FAMILY NAME | Blaska |
| SIGNATURE | BLASKA M |
| AFFILIATIONS | Medical University of Silesia |
| VERIFIED | No |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2023 |
| LATEST PUBLICATION YEAR | 2023 |
| H-INDEX | 0 |
A 4-Year-Old Boy with an Accidentally Detected Mutation in the RET Proto-Oncogene and Mutation in the Gene Encoding the Ryanodine Receptor1 (RyR1)—Case Report
Multiple endocrine neoplasia 2B (MEN2B) is a rare syndrome with prevalence estimated at approximately 0.2 per 100,000; it is caused by mutation of the RET proto-oncogene. MEN2B is characterized by early-onset medullary thyroid carcinoma (MTC), ganglioneuromatosis of the aerodigestive tract, marfanoid habitus, ophthalmologic abnormalities, and pheochromocytoma in adulthood. Mutations in the RyR1 gene manifest clinically in congenital myopathies an…
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A 4-Year-Old Boy with an Accidentally Detected Mutation in the RET Proto-Oncogene and Mutation in the Gene Encoding the Ryanodine Receptor1 (RyR1)—Case Report
Multiple endocrine neoplasia 2B (MEN2B) is a rare syndrome with prevalence estimated at approximately 0.2 per 100,000; it is caused by mutation of the RET proto-oncogene. MEN2B is characterized by early-onset medullary thyroid carcinoma (MTC), ganglioneuromatosis of the aerodigestive tract, marfanoid habitus, ophthalmologic abnormalities, and pheochromocytoma in adulthood. Mutations in the RyR1 gene manifest clinically in congenital myopathies an…
Biology (1 work) · Calcitonin (1 work) · Calcium (1 work) · Endocrinology (1 work) · Gastroenterology (1 work) · Gene (1 work) · Genetics (1 work) · Germline mutation (1 work) · Internal Medicine (1 work) · Medicine (1 work)