TY - JOUR
T1 - Some chondrodysplasias with short limbs
T2 - Molecular perspectives
AU - Cohen, M. Michael
PY - 2002/10/15
Y1 - 2002/10/15
N2 - A table of molecularly defined chondrodysplasias with short limbs is provided. Several are discussed in detail, including osteogenesis imperfecta and type I collagen mutations, Jansen metaphyseal chondrodysplasia and parathyroid hormone/parathyroid hormone-related protein receptor mutation, and chondrodysplasias caused by fibroblast growth factor receptor 3 mutations. The latter group includes achondroplasia, hypochondroplasia, thanatophoric dysplasia (types 1 and 2), San Diego platyspondylic dysplasia, and SADDAN.
AB - A table of molecularly defined chondrodysplasias with short limbs is provided. Several are discussed in detail, including osteogenesis imperfecta and type I collagen mutations, Jansen metaphyseal chondrodysplasia and parathyroid hormone/parathyroid hormone-related protein receptor mutation, and chondrodysplasias caused by fibroblast growth factor receptor 3 mutations. The latter group includes achondroplasia, hypochondroplasia, thanatophoric dysplasia (types 1 and 2), San Diego platyspondylic dysplasia, and SADDAN.
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U2 - 10.1002/ajmg.10780
DO - 10.1002/ajmg.10780
M3 - Article
C2 - 12357475
AN - SCOPUS:0037108028
SN - 0148-7299
VL - 112
SP - 304
EP - 313
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 3
ER -