Condrodisplasias responsables de insuficiencia estatural

Maroteaux, 2002 Taybi, 1990 Superti-Furga, 2007, Nosology and classification of genetic skeletal disorders: 2006 Revision, Am J Med Genet, 143A, 1, 10.1002/ajmg.a.31483 Hunter, 1998, Medical complications of achondroplasia: a multicentre patient review, J Med Genet, 35, 705, 10.1136/jmg.35.9.705 Baujat, 2008, Achondroplasia, Best Pract Res Clin Rheumatol, 22, 3, 10.1016/j.berh.2007.12.008 Reina, 2014, Craniovertebral junction anomalies in achondroplastic children, Adv Tech Stand Neurosurg, 40, 295, 10.1007/978-3-319-01065-6_10 Julliand, 2012, Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia, Am J Med Genet A, 158A, 1987, 10.1002/ajmg.a.35441 Laederich, 2010, Achondroplasia: pathogenesis and implications for future treatment, Curr Opin Pediatr, 22, 516, 10.1097/MOP.0b013e32833b7a69 Le Merrer, 1994, A gene for achondroplasia-hypochondroplasia maps to chromosome 4p, Nat Genet, 6, 318, 10.1038/ng0394-318 Rousseau, 1994, Mutations in the gene encoding fibroblast growth factor receptor 3 in achondroplasia, Nature, 371, 252, 10.1038/371252a0 Bonaventure, 1996, Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia and thanatophoric dwarfism, Am J Hum Genet, 63, 148, 10.1002/(SICI)1096-8628(19960503)63:1<148::AID-AJMG26>3.0.CO;2-N Bellus, 1995, A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia, Nat Genet, 10, 357, 10.1038/ng0795-357 Braverman, 1997, Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata, Nat Genet, 15, 369, 10.1038/ng0497-369 Maroteaux, 1989, Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form, Hum Genet, 82, 167, 10.1007/BF00284052 Franco, 1995, A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy, Cell, 81, 15, 10.1016/0092-8674(95)90367-4 Kelley, 1999, Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata, Am J Med Genet, 83, 213, 10.1002/(SICI)1096-8628(19990319)83:3<213::AID-AJMG15>3.0.CO;2-C Braverman, 1999, Mutation in the gene encoding 3ß- hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome, Nat Genet, 22, 291, 10.1038/10357 Hästbacka, 1994, The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping, Cell, 78, 1073, 10.1016/0092-8674(94)90281-X Hätsbacka, 1996, Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate transporte gene (DTDST), Am J Hum Genet, 58, 255 Superti-Furga, 1996, A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations, Am J Hum Genet, 63, 144, 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N Genevieve, 2005, Long-term follow-up in a patient with metatropic dysplasia, Am J Med Genet A, 135, 342, 10.1002/ajmg.a.30710 Krakow, 2009, Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia, Am J Hum Genet, 84, 307, 10.1016/j.ajhg.2009.01.021 Belin, 1998, SHOX mutations in dyschondrosteosis (Leri-Weill syndrome), Nat Genet, 19, 67, 10.1038/ng0198-67 Afzal, 2000, Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2, Nat Genet, 25, 419, 10.1038/78107 Faiyaz-Ul-Haque, 2002, Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia, Am J Med Genet, 111, 31, 10.1002/ajmg.10501 Bartels, 2004, Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux, Am J Hum Genet, 75, 27, 10.1086/422013 Spranger, 1994, The type II collagenopathies: a spectrum of chondrodysplasias, Eur J Pediatr, 153, 56 Hoornaert, 2006, The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene, J Med Genet, 43, 406, 10.1136/jmg.2005.035717 Winterpacht, 1993, Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect, Nat Genet, 3, 323, 10.1038/ng0493-323 Briggs, 1998, Diverse mutations of the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum, Am J Hum Genet, 62, 311, 10.1086/301713 Annunen, 1999, Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes, Am J Hum Genet, 65, 974, 10.1086/302585 Vikkula, 1995, Autosomal dominant and recessive osteochondrodysplasias associated to the COL11A2 locus, Cell, 80, 431, 10.1016/0092-8674(95)90493-X Ruiz-Perez, 2000, Mutations in a new gene in Ellis-Van Creveld syndrome and Weyers acrodental dysostosis, Nat Genet, 24, 283, 10.1038/73508 Ruiz-Perez, 2003, Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome, Am J Hum Genet, 72, 728, 10.1086/368063 Maroteaux, 1964, La dystrophie thoracique asphyxiante : étude radiologique et rapports avec le syndrome d’Ellis et van Creveld, Ann Radiol, 7, 332 Beales, 2007, IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy, Nat Genet, 39, 727, 10.1038/ng2038 Dagoneau, 2009, DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III, Am J Hum Genet, 84, 706, 10.1016/j.ajhg.2009.04.016 Mundlos, 1999, Cleidocranial dysplasia: clinical and molecular genetics, J Med Genet, 36, 177 Mundlos, 1997, Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia, Cell, 89, 773, 10.1016/S0092-8674(00)80260-3 Hecht, 1995, Mutations in exon 17b of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia, Nat Genet, 10, 325, 10.1038/ng0795-325 Briggs, 2002, Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations, Hum Mutat, 19, 465, 10.1002/humu.10066 Hesse, 2003, Does it always have to be Perthes’ disease? What is epiphyseal dysplasia?, Clin Orthop, 414, 219, 10.1097/01.blo.0000079272.91782.b1 Paassilta, 1999, COL9A3: a third locus for multiple epiphyseal dysplasia, Am J Hum Genet, 64, 1036, 10.1086/302328 Makitie, 2005, Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients, Am J Med Genet, 137A, 241, 10.1002/ajmg.a.30855 Wallis, 1996, Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia, J Med Genet, 33, 450, 10.1136/jmg.33.6.450 Makitie, 1993, Cartilage-hair hypoplasia: clinical manifestations in 108 Finnish patients, Eur J Pediatr, 152, 211, 10.1007/BF01956147 Ridanpää, 2001, Mutations in the RNA component of Rnase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia, Cell, 104, 195, 10.1016/S0092-8674(01)00205-7 Schipani, 1995, A constitutively active mutant PTH-PTHrP receptor in Jansen type metaphyseal chondrodysplasia, Science, 268, 98, 10.1126/science.7701349 Paupe, 2004, Recent advances in Dyggve-Melchior-Clausen syndrome, Mol Genet Metab, 83, 51, 10.1016/j.ymgme.2004.08.012 Kozlowski, 1967, La dysostose spondylo-métaphysaire, Presse Med, 75, 2769 Hurvitz, 1999, Mutations in the CCN gene family member WISP3 cause progressive pseudoheumatoid dysplasia, Nat Genet, 23, 94, 10.1038/12699 Gedeon, 2001, The molecular basis of X-linked spondyloepiphyseal dysplasia tarda, Am J Hum Genet, 68, 1386, 10.1086/320592 Shobat, 1989, Brachyolmia: radiographic and genetic evidence of heterogeneity, Am J Med Genet, 33, 209, 10.1002/ajmg.1320330214 Lüdecke, 2001, Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III, Am J Hum Genet, 68, 81, 10.1086/316926 Michot, 2012, Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis, Am J Hum Genet, 90, 740, 10.1016/j.ajhg.2012.03.003 Linglart, 2012, PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance, J Clin Endocrinol Metab, 97, E2328, 10.1210/jc.2012-2326 Le Goff, 2014, Myhre syndrome, Clin Genet, 85, 503, 10.1111/cge.12365 Le Goff, 2008, ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation, Nat Genet, 40, 1119, 10.1038/ng.199 Le Goff, 2009, Genetic and molecular aspects of acromelic dysplasia, Pediatr Endocrinol Rev, 6, 418 Rosilio, 2012, Genotypes and phenotypes of children with SHOX deficiency in France, J Clin Endocrinol Metab, 97, E1257, 10.1210/jc.2011-3460