Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP
Open Access
- 5 May 2011
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 88 (5) , 608-615
- https://doi.org/10.1016/j.ajhg.2011.04.002
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)Human Mutation, 2009
- Identification of CANT1 Mutations in Desbuquois DysplasiaAmerican Journal of Human Genetics, 2009
- A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfationProceedings of the National Academy of Sciences, 2008
- JAWS coordinates chondrogenesis and synovial joint positioningDevelopment, 2008
- Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal DysostosisAmerican Journal of Human Genetics, 2008
- A molecular and clinical study of Larsen syndrome caused by mutations in FLNBJournal of Medical Genetics, 2006
- Defective Glycosaminoglycan Substitution of Decorin in a Patient With Progeroid Syndrome Is a Direct Consequence of Two Point Mutations in the Galactosyltransferase I ( 4galT-7) GeneBiochemical Genetics, 2005
- Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvementProceedings of the National Academy of Sciences, 2004
- A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid typeAmerican Journal of Medical Genetics Part A, 2004
- Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouseNature Genetics, 1998