TY  - GEN
AU  - Vissers,Lisenka E L M
AU  - Lausch,Ekkehart
AU  - Unger,Sheila
AU  - Campos-Xavier,Ana Belinda
AU  - Gilissen,Christian
AU  - Rossi,Antonio
AU  - Del Rosario,Marisol
AU  - Venselaar,Hanka
AU  - Knoll,Ute
AU  - Nampoothiri,Sheela
AU  - Nair,Mohandas
AU  - Spranger,Jürgen
AU  - Brunner,Han G
AU  - Bonafé,Luisa
AU  - Veltman,Joris A
AU  - Zabel,Bernhard
AU  - Superti-Furga,Andrea
TI  - Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP
SN  - 1537-6605
PY  - 2011///0815
KW  - Amino Acid Sequence
KW  - Bone Diseases, Developmental
KW  - enzymology
KW  - Female
KW  - Golgi Apparatus
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Joint Diseases
KW  - Limb Deformities, Congenital
KW  - pathology
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nucleotides
KW  - metabolism
KW  - Phenotype
KW  - Phosphoric Monoester Hydrolases
KW  - genetics
KW  - Protein Structure, Quaternary
KW  - Proteoglycans
KW  - Sulfotransferases
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2011.04.002
ER  -