{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T08:32:51Z","timestamp":1768293171844,"version":"3.49.0"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2011,8,24]],"date-time":"2011-08-24T00:00:00Z","timestamp":1314144000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Radiol"],"published-print":{"date-parts":[[2012,1]]},"DOI":"10.1007\/s00247-011-2229-6","type":"journal-article","created":{"date-parts":[[2011,8,23]],"date-time":"2011-08-23T19:19:38Z","timestamp":1314127178000},"page":"15-23","source":"Crossref","is-referenced-by-count":18,"title":["The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)"],"prefix":"10.1007","volume":"42","author":[{"given":"Stefan F.","family":"Nemec","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel H.","family":"Cohn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Krakow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent A.","family":"Funari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,8,24]]},"reference":[{"key":"2229_CR1","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1097\/GIM.0b013e3181daae9b","volume":"12","author":"D Krakow","year":"2010","unstructured":"Krakow D, Rimoin DL (2010) The skeletal dysplasias. Genet Med 12:327\u2013341","journal-title":"Genet Med"},{"key":"2229_CR2","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1002\/ajmg.a.33909","volume":"155A","author":"ML Warman","year":"2011","unstructured":"Warman ML, Cormier-Daire V, Hall C et al (2011) Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 155A:943\u2013968","journal-title":"Am J Med Genet A"},{"key":"2229_CR3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0720-048X(92)90052-B","volume":"14","author":"RS Lachman","year":"1992","unstructured":"Lachman RS, Tiller GE, Graham JM Jr et al (1992) Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update. Eur J Radiol 14:1\u201310","journal-title":"Eur J Radiol"},{"key":"2229_CR4","first-page":"56","volume":"153","author":"J Spranger","year":"1993","unstructured":"Spranger J, Winterpacht A, Zabel B (1993) The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr 153:56\u201365","journal-title":"Eur J Pediatr"},{"key":"2229_CR5","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1111\/j.1749-6632.1996.tb56259.x","volume":"785","author":"A Superti-Furga","year":"1996","unstructured":"Superti-Furga A, H\u00e4stbacka J, Rossi A (1996) A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans. Ann N Y Acad Sci 785:195\u2013201","journal-title":"Ann N Y Acad Sci"},{"key":"2229_CR6","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/ng1319","volume":"36","author":"D Krakow","year":"2004","unstructured":"Krakow D, Robertson SP, King LM et al (2004) Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet 36:405\u2013410","journal-title":"Nat Genet"},{"key":"2229_CR7","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1038\/ng.166","volume":"40","author":"MJ Rock","year":"2008","unstructured":"Rock MJ, Prenen J, Funari VA et al (2008) Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet 40:999\u20131003","journal-title":"Nat Genet"},{"key":"2229_CR8","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.ajhg.2009.01.021","volume":"84","author":"D Krakow","year":"2008","unstructured":"Krakow D, Vriens J, Camacho N et al (2008) 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\u2013315","journal-title":"Am J Hum Genet"},{"key":"2229_CR9","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1136\/jmg.2009.075358","volume":"47","author":"J Dai","year":"2010","unstructured":"Dai J, Kim OH, Cho TJ et al (2010) Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet 47:704\u2013709","journal-title":"J Med Genet"},{"key":"2229_CR10","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/jhg.2010.37","volume":"55","author":"J Dai","year":"2010","unstructured":"Dai J, Cho TJ, Unger S et al (2010) TRPV4-pathy, a novel channelopathy affecting diverse systems. J Hum Genet 55:400\u2013402","journal-title":"J Hum Genet"},{"key":"2229_CR11","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/0006-2944(73)90062-8","volume":"7","author":"PA Mour\u00e3o","year":"1973","unstructured":"Mour\u00e3o PA, Toledo SP, Nader HB et al (1973) Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia). Biochem Med 7:415\u2013423","journal-title":"Biochem Med"},{"key":"2229_CR12","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/ajmg.1320330214","volume":"33","author":"M Shohat","year":"1989","unstructured":"Shohat M, Lachman R, Gruber HE et al (1989) Brachyolmia: radiographic and genetic evidence of heterogeneity. Am J Med Genet 33:209\u2013219","journal-title":"Am J Med Genet"},{"key":"2229_CR13","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/ajmg.1320490313","volume":"49","author":"J Gardner","year":"1994","unstructured":"Gardner J, Beighton P (1994) Brachyolmia: an autosomal dominant form. Am J Med Genet 49:308\u2013312","journal-title":"Am J Med Genet"},{"key":"2229_CR14","first-page":"2769","volume":"75","author":"K Kozlowski","year":"1967","unstructured":"Kozlowski K, Maroteaux P, Spranger JW (1967) La dysostose spondylometaphysaire. Presse Med 75:2769","journal-title":"Presse Med"},{"key":"2229_CR15","unstructured":"Lachman RS (2007) Spondylometaphyseal dysplasia, Kozlowski type (SMD Kozlowski). In: Taybi & Lachman\u2019s Radiology of syndromes, metabolic disorders and skeletal dysplasias, 5th edn. Mosby, Elsevier, Philadelphia, pp 1080\u20131085"},{"key":"2229_CR16","first-page":"211","volume":"173","author":"P Maroteaux","year":"1966","unstructured":"Maroteaux P, Spranger J, Wiedemann HR (1966) Metatrophic dwarfism. Arch Kinderheilkd 173:211\u2013226","journal-title":"Arch Kinderheilkd"},{"key":"2229_CR17","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1002\/ajmg.a.32191","volume":"146","author":"D Genevi\u00e8ve","year":"2008","unstructured":"Genevi\u00e8ve D, Le Merrer M, Feingold J et al (2008) Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature. Am J Med Genet A 146:992\u2013996","journal-title":"Am J Med Genet A"},{"key":"2229_CR18","unstructured":"Lachman RS (2007) Brachyolmia. In: Taybi & Lachman\u2019s Radiology of syndromes, metabolic disorders and skeletal dysplasias, 5th edn. Mosby, Elsevier, Philadelphia, pp 891\u2013892"},{"key":"2229_CR19","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1002\/ajmg.a.33392","volume":"152","author":"N Camacho","year":"2010","unstructured":"Camacho N, Krakow D, Johnykutty S et al (2010) Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet A 152:1169\u20131177","journal-title":"Am J Med Genet A"},{"key":"2229_CR20","unstructured":"Lachman RS (2007) Metatropic dysplasia. In: Taybi & Lachman\u2019s Radiology of syndromes, metabolic disorders and skeletal dysplasias, 5th edn. Mosby, Elsevier, Philadelphia, pp 1000\u20131001"},{"key":"2229_CR21","first-page":"5","volume":"45","author":"LW Murray","year":"1989","unstructured":"Murray LW, Bautista J, James PL et al (1989) Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. Am J Hum Genet 45:5\u201315","journal-title":"Am J Hum Genet"},{"key":"2229_CR22","first-page":"255","volume":"58","author":"J H\u00e4stbacka","year":"1996","unstructured":"H\u00e4stbacka J, Superti-Furga A, Wilcox WR et al (1996) Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet 58:255\u2013262","journal-title":"Am J Hum Genet"},{"key":"2229_CR23","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1002\/humu.20348","volume":"27","author":"C Farrington-Rock","year":"2006","unstructured":"Farrington-Rock C, Firestein MH, Bicknell LS et al (2006) Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat 27:705\u2013710","journal-title":"Hum Mutat"},{"key":"2229_CR24","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1111\/j.1749-6632.1996.tb56254.x","volume":"785","author":"DH Cohn","year":"1996","unstructured":"Cohn DH (1996) Mutations affecting multiple functional domains of FGFR3 cause different skeletal dysplasias: a personal retrospective in honor of John Wasmuth. Ann N Y Acad Sci 785:160\u2013163","journal-title":"Ann N Y Acad Sci"},{"key":"2229_CR25","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/ajmg.a.10924","volume":"117","author":"R Savarirayan","year":"2003","unstructured":"Savarirayan R, White SM, Goodman FR et al (2003) Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. Am J Med Genet A 117:136\u2013142","journal-title":"Am J Med Genet A"},{"key":"2229_CR26","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1111\/j.1749-6632.2010.05389.x","volume":"1192","author":"F Guilak","year":"2010","unstructured":"Guilak F, Leddy HA, Liedtke W (2010) Transient receptor potential vanilloid 4: The sixth sense of the musculoskeletal system? Ann N Y Acad Sci 1192:404\u2013409","journal-title":"Ann N Y Acad Sci"},{"key":"2229_CR27","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.cmet.2008.08.002","volume":"8","author":"R Masuyama","year":"2008","unstructured":"Masuyama R, Vriens J, Voets T et al (2008) TRPV4-mediated calcium influx regulates terminal differentiation of osteoclasts. Cell Metab 8:257\u2013265","journal-title":"Cell Metab"},{"key":"2229_CR28","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1002\/ajmg.a.33414","volume":"152","author":"G Nishimura","year":"2010","unstructured":"Nishimura G, Dai J, Lausch E et al (2010) Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A 152:1443\u20131449","journal-title":"Am J Med Genet A"},{"key":"2229_CR29","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ng.508","volume":"42","author":"M Auer-Grumbach","year":"2010","unstructured":"Auer-Grumbach M, Olschewski A, Papi\u0107 L et al (2010) Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 42:160\u2013164","journal-title":"Nat Genet"}],"container-title":["Pediatric Radiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00247-011-2229-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00247-011-2229-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00247-011-2229-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T12:46:37Z","timestamp":1712753197000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00247-011-2229-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,8,24]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["2229"],"URL":"https:\/\/doi.org\/10.1007\/s00247-011-2229-6","relation":{},"ISSN":["0301-0449","1432-1998"],"issn-type":[{"value":"0301-0449","type":"print"},{"value":"1432-1998","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,8,24]]}}}