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2009 MAY 4 ... are identical to germline mutations in FGFR2 and FGFR3 that cause craniosynostosis and hypochondroplasia syndromes and result in both ligand-independent and ligand-dependent receptor ...
2009 AUG 3 ... note that some people are affected by a similar appearing growth disorder, called hypochondroplasia, which belongs to a group of conditions commonly referred to as dwarfism. While about ...
Subject: NIH/National Human Genome Research Institute
2009 FEB 5 ... (one), achondroplasia (one), posttraumatic limb-length discrepancy (one), and hypochondroplasia (one)."
"Average age was 24.5 years (range, 15-54 years). The screw ...
2009 MAY 25 ... (one newborn baby with Patau syndrome; three patients studied to rule out scoliosis, hypochondroplasia and syndromic traits; one for dyspnoea due to sunflower seeds inhalation). Only one was ...
2009 APR 21 ... development and activating mutations in FGFR3 cause skeletal dysplasias, including hypochondroplasia, achondroplasia and thanatophoric dysplasia. The introduction of the Y367C mutation ...
2009 JUL 20 ... the first place Gold Award for her report, titled "Improving Mobility in a Client with Hypochondroplasia (Dwarfism)." Ms. Hanson's report followed a middle-aged woman with...
2006 FEB 21 ... 3D multislice CT imaging can be a useful tool in fetal diagnosis of hypochondroplasia.
In a paper published in the journal Fetal Diagnosis and Therapy, ...
2007 OCT 1 ... in "Distraction osteogenesis of the lower extremity in patients with achondroplasia/hypochondroplasia treated with transplantation of culture-expanded bone marrow cells and platelet-rich ...
2007 DEC 3 ... mutations in FGFR2 and FGFR3 that cause Apert Syndrome, Beare-Stevenson Syndrome, hypochondroplasia, achondroplasia and SADDAN syndrome. The two most common somatic mutations identified ...
2007 SEP 4 ... result in skeletal dysplasias of variable severity, including mild phenotypic effects in hypochondroplasia (HCH), severe phenotypic effects in thanatophoric dysplasia types I (TDI) and II (TDII), ...
2007 JUN 12 ... born mutant in both alleles die within the first month. Those that survive develop a hypochondroplasia-like dwarfism, characterized by shortened growth plates and kyphosis. Expression of ...
