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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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