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FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans
