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Unformatted text preview: haploinsuffiencey of Pax3 inherited as dominant trait hair & eyes Greigs’ cephalopolysyndactyly 6 fingers grown together heterozygous for Gli3 relatively common birth defect—not fatal hemimelic (extra toes) extra thumb—mutation in Shh enhancer Anchondroplasia (dominant dwarfism) caused by activated form of FGF3 receptor premature ossification of growth plates dominant gain of function-mutations are genes expressed in ectopic location/gene products that are over-active hemimelic dwarfism dominant negative-mutatinos are lss of function alleles that effect wildtype gene products Marfan syndrome-effects fibrin protein in elastic connective tissue Causes of Birth Defects endocrine distruptors diethylstilbestrol (DES) 50s&60s—environmental estrogen prescribed for morning sickness abnormal development of baby environmental estrogens—...
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This note was uploaded on 10/12/2009 for the course MCB 41 taught by Professor Garriga during the Spring '07 term at Berkeley.
- Spring '07