Mutations in FGFR3 gene associated with maxillary retrognathism
نویسندگان
چکیده
منابع مشابه
FGFR3 gene mutations associated with human skeletal disorders occur rarely in multiple myeloma.
Mantel N, McPherson K, Peto J, Smith PG: Design and analysis of randomized clinical trials requiring prolonged observation of each patient.
متن کاملFGFR3 Gene Mutations Associated With Human Skeletal Disorders Occur Rarely in Multiple Myeloma
Mantel N, McPherson K, Peto J, Smith PG: Design and analysis of randomized clinical trials requiring prolonged observation of each patient.
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Bladder tumors constitute a very heterogeneous disease. Superficial tumors are characterized by a high prevalence of FGFR3 mutations and chromosome 9 alterations. High-grade and muscle-invasive tumors are characterized by Tp53 mutations and aneuploidy. We have analyzed the sequence of exons 9 and 20 of PIK3CA in a panel of bladder tumors covering the whole spectrum of the disease. DNA from form...
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abstract objective: in this study, we evaluated pten mutations in cowden disease and juvenile polyposis syndrome. pten mutations were detected, cancer and other phenotypes associated with each of these mutations were characterized and loss of wild type pten allele in the associated tumors was demonstrated. methods: out of 9 patients included in this study, 8 had juvenile polyposis and 1 had c...
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FGFR3 (fibroblast growth factor receptor 3) is a gene responsible for the most common form of osteodysplasia, achondroplasia, which results in extreme short stature. An allelic disorder, hypochondroplasia, however, presents with a much milder phenotype and is sometimes indistinguishable from idiopathic short stature. In this study, in order to test the possibility of the mildest end of hypochon...
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ژورنال
عنوان ژورنال: Indian Journal of Dental Research
سال: 2019
ISSN: 0970-9290
DOI: 10.4103/ijdr.ijdr_113_18