TY  - GEN
AU  - Van Dijk,Fleur S
AU  - Nesbitt,Isabel M
AU  - Nikkels,Peter G J
AU  - Dalton,Ann
AU  - Bongers,Ernie M H F
AU  - van de Kamp,Jiddeke M
AU  - Hilhorst-Hofstee,Yvonne
AU  - Den Hollander,Nicolette S
AU  - Lachmeijer,Augusta M A
AU  - Marcelis,Carlo L
AU  - Tan-Sindhunata,Gita M B
AU  - van Rijn,Rick R
AU  - Meijers-Heijboer,Hanne
AU  - Cobben,Jan M
AU  - Pals,Gerard
TI  - CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis
SN  - 1476-5438
PY  - 2010///0120
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Extracellular Matrix Proteins
KW  - genetics
KW  - Family
KW  - Fatal Outcome
KW  - Female
KW  - Fetus
KW  - abnormalities
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Molecular Biology
KW  - methods
KW  - Molecular Chaperones
KW  - Mutation
KW  - Osteogenesis Imperfecta
KW  - diagnostic imaging
KW  - Pedigree
KW  - Pregnancy
KW  - Radiography
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1038/ejhg.2009.75
ER  -