Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene.
Marijke
M
Aerts
Caroline
C
Van Holsbeke
Thomy
T
de Ravel
Roland
R
Devlieger
D000328:Adult; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D009154:Mutation; D048208:Nuchal Translucency Measurement; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging* / Q000235:genetics*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain