TY - JOUR
AU - Chauvet, M. L.
AB - Pediatr Radiol (1997) 27: 366–387 Springer-Verlag 1997 Jean Frezal Osteochondrodysplasias, dysostoses, M. Le Merrer disorders of calcium metabolism, M. L. Chauvet congenital malformations with skeletal involvement mapped on human chromosomes Received: 10 August 1996 Accepted: 30 August 1996 J. Fre ´ zal ( ) Laboratoire Ge ´ne ´ tique Me ´ dicale Ho ˆ pital Necker-Enfants Malades 149, rue de Se ` vres F-75015 Paris Cedex 15, France Gene MIM Chromosomal Designation Gene involved symbol number location Chromosome 1 AOM 2 108 300 1p21 arthroophthalmopathy, progressive, with deafness Stickler collagen, type XI, syndrome (? COL 11A1 defect) alpha 1 (COL 11A1) EDM 2 600 204 1p32 multiple epiphyseal dysplasia, Fairbank type, 2 collagen, type IX, (COL9A2 defect) alpha 2 (COL9A2) EDS 6 225 400 1p36.3-p36.2 Ehlers-Danlos, type VI, ocular scoliotic form lysyl hydroxylase, (PLOD deficiency) protocollagen (PLOD) (putative) HOPS 1 241 500 1p36.1-p34 hypophosphatasia, infantile (ALPL deficiency) phosphatase alkaline, liver, bone, kidney (ALPL) HRPT 2 145 001 1q21-q23 hereditary hyperparathyroidism with jaw, parathyroid and Wilms tumors PYCD 265 800 1q21 pycnodysostosis cathepsin K, lysosomal (CTSK) SJS 255 800 1p36.1-p34 chondrodystrophic myotonia, Schwartz Jampel syndrome ZWS 2 170 995 1p22-p21 Zellweger, cerebrohepatorenal syndrome, complementation peroxisomal membrane group 1 (defect in 
TI - Osteochondrodysplasias, dysostoses, disorders of calcium metabolism, congenital malformations with skeletal involvement mapped on human chromosomes
JF - Pediatric Radiology
DO - 10.1007/s002470050153
DA - 1997-05-12
UR - https://www.deepdyve.com/lp/springer-journals/osteochondrodysplasias-dysostoses-disorders-of-calcium-metabolism-3a1e0Wejt0
SP - 366
EP - 387
VL - 27
IS - 5
DP - DeepDyve
ER -