thanatophoric dysplasia การใช้

• In 39 of 55 thanatophoric dysplasia cases tested, the team found mutations on that same gene.
• An unusual head shape called kleeblattsch鋎el ( " cloverleaf skull " ) can be seen with type 2 thanatophoric dysplasia.
• Thanatophoric dysplasia is caused by " a new spontaneous mutation that happens either in the mom's egg or father's sperm.
• The newest find by the University of California at Irvine team is a group of mutations that cause thanatophoric dysplasia.
• Thanatophoric dysplasia, so named because of its lethality at birth, is the most common lethal congenital skeletal dysplasia with an estimated prevalence of one in 6, 400 to one in 16, 700 births.
• Because the defects in children born with two copies of the achondroplasia defect are similar to those found in children born with thanatophoric dysplasia, Wasmuth went back to the FGFR3 gene, on human chromosome No . 4, where he made the first dwarfism discovery.
• In 2005, a six-month-old infant, Sun Hudson, with a uniformly fatal disease thanatophoric dysplasia, was the first patient in which " a United States court has allowed life-sustaining treatment to be withdrawn from a pediatric patient over the objections of the child's parent ."