Double inactivation of NF1 in tibial pseudarthrosis

Article Abstract:

Prospectively acquired tissue from the pseudarthrosis (PA) site of two individuals with neurofibromatosis type 1 (NF1) is used for immunohistochemical characterization and genotype analysis of the NF1 locus. Genotype analysis of PA tissue with the use of four genetic markers spanning the NF1 locus demonstrates loss of heterozygosity.

Alabama, Diagnosis, Observations, Neurofibromatosis, Allelomorphism, Alleles, Radiography, Medical, Medical radiography, Clinical report

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A novel mutations in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome

Article Abstract:

The locus causing a novel disorder characterized by camptodactyly, tall stature, scoliosis and hearing loss to chromosome 4p is mapped. Findings indicate that abnormal fibroblast growth factor receptor 3 can cause human anomalies by promoting as well as inhibiting endochondrial bone growth.

Causes of, Genetic aspects, Chromosomes, Hearing loss, Fibroblast growth factors, Scoliosis

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