{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T19:31:59Z","timestamp":1778873519930,"version":"3.51.4"},"reference-count":41,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2005,10,1]],"date-time":"2005-10-01T00:00:00Z","timestamp":1128124800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2005,10]]},"DOI":"10.1016\/j.jpeds.2005.04.069","type":"journal-article","created":{"date-parts":[[2006,2,2]],"date-time":"2006-02-02T07:12:22Z","timestamp":1138864342000},"page":"499-507","source":"Crossref","is-referenced-by-count":60,"title":["The Phenotype of Short Stature Homeobox Gene (SHOX) Deficiency in Childhood: Contrasting Children with Leri-Weill Dyschondrosteosis and Turner Syndrome"],"prefix":"10.1016","volume":"147","author":[{"given":"Judith L.","family":"Ross","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Kowal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charmian A.","family":"Quigley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Werner F.","family":"Blum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"Gordon B.","family":"Cutler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brenda","family":"Crowe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karine","family":"Hovanes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frederick F.","family":"Elder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew R.","family":"Zinn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2005.04.069_bib1","first-page":"1491","article-title":"Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose","volume":"53","author":"Leri","year":"1929","journal-title":"Bull Mem Soc Med Hop (Paris)"},{"key":"10.1016\/j.jpeds.2005.04.069_bib2","doi-asserted-by":"crossref","first-page":"178","DOI":"10.2214\/ajr.95.1.178","article-title":"Dyschondrosteosis, a hereditable bone dysplasia with characteristic roentgenographic features","volume":"95","author":"Langer","year":"1965","journal-title":"Am J Roentgenol"},{"key":"10.1016\/j.jpeds.2005.04.069_bib3","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1507\/endocrj.51.197","article-title":"Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens","volume":"51","author":"Fukami","year":"2004","journal-title":"Endocr J"},{"key":"10.1016\/j.jpeds.2005.04.069_bib4","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/ng0198-67","article-title":"Shox mutations in dyschondrosteosis (Leri-Weill-Syndrome)","volume":"19","author":"Belin","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib5","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/j.1651-2227.1999.tb14404.x","article-title":"SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome","volume":"88","author":"Cormier-Daire","year":"1999","journal-title":"Acta Paediatr Suppl"},{"key":"10.1016\/j.jpeds.2005.04.069_bib6","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<367::AID-AJMG5>3.0.CO;2-K","article-title":"Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3","volume":"83","author":"Spranger","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib7","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1038\/sj.ejhg.5200402","article-title":"Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome","volume":"8","author":"Schiller","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib8","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ng0198-70","article-title":"Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis","volume":"19","author":"Shears","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib9","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1142\/S0218810401000424","article-title":"Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate","volume":"6","author":"Munns","year":"2001","journal-title":"Hand Surg"},{"key":"10.1016\/j.jpeds.2005.04.069_bib10","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1002\/1096-8628(20010901)102:4<353::AID-AJMG1481>3.0.CO;2-7","article-title":"A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis from his father","volume":"102","author":"Wei","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib11","doi-asserted-by":"crossref","first-page":"5674","DOI":"10.1210\/jc.86.12.5674","article-title":"Phenotypes Associated with SHOX Deficiency","volume":"86","author":"Ross","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jpeds.2005.04.069_bib12","series-title":"Anthropometric Standards for the Assessment of Growth and Nutritional Status","author":"Frisancho","year":"1990"},{"key":"10.1016\/j.jpeds.2005.04.069_bib13","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1093\/ajcn\/32.3.607","article-title":"Physical growth: National Center for Health Statistics percentiles","volume":"32","author":"Hamill","year":"1979","journal-title":"Am J Clin Nutr"},{"key":"10.1016\/j.jpeds.2005.04.069_bib14","series-title":"Heritable disorders of connective tissue","author":"McKusick","year":"1972"},{"key":"10.1016\/j.jpeds.2005.04.069_bib15","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1136\/adc.44.235.291","article-title":"Variations in pattern of pubertal changes in girls","volume":"44","author":"Marshall","year":"1969","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jpeds.2005.04.069_bib16","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1086\/302152","article-title":"Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1","volume":"63","author":"Zinn","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib17","series-title":"Radiographic Atlas of Skeletal Development of the Hand and Wrist","author":"Greulich WaP","year":"1959"},{"key":"10.1016\/j.jpeds.2005.04.069_bib18","first-page":"1","article-title":"CDC growth charts: United States","volume":"314","author":"Kuczmarski","year":"2000","journal-title":"Adv Data"},{"key":"10.1016\/j.jpeds.2005.04.069_bib19","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1016\/S0022-3476(69)80224-6","article-title":"Intrauterine growth of live-born Caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation","volume":"74","author":"Usher","year":"1969","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2005.04.069_bib20","series-title":"Anthropologischer Atlas","author":"Flugel","year":"1986"},{"key":"10.1016\/j.jpeds.2005.04.069_bib21","series-title":"Handbook of Normal Physical Measurements","author":"Hall","year":"1995"},{"key":"10.1016\/j.jpeds.2005.04.069_bib22","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/hmg\/10.6.591","article-title":"Prediction of deleterious human alleles","volume":"10","author":"Sunyaev","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib23","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1136\/jmg.38.5.323","article-title":"SHOX point mutations in dyschondrosteosis","volume":"38","author":"Huber","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib24","doi-asserted-by":"crossref","first-page":"E33","DOI":"10.1136\/jmg.39.6.e33","article-title":"SHOX point mutations and deletions in Leri-Weill dyschondrosteosis","volume":"39","author":"Falcinelli","year":"2002","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib25","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1002\/ajmg.10228","article-title":"Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)","volume":"106","author":"Cormier-Daire","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib26","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1515\/JPEM.2003.16.7.987","article-title":"Familial growth and skeletal features associated with SHOX haploinsufficiency","volume":"16","author":"Munns","year":"2003","journal-title":"J Pediatr Endocrinol Metab"},{"key":"10.1016\/j.jpeds.2005.04.069_bib27","doi-asserted-by":"crossref","first-page":"3088","DOI":"10.1073\/pnas.94.7.3088","article-title":"Rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina","volume":"94","author":"Furukawa","year":"1997","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jpeds.2005.04.069_bib28","doi-asserted-by":"crossref","first-page":"3083","DOI":"10.1093\/hmg\/10.26.3083","article-title":"The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator","volume":"10","author":"Rao","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib29","doi-asserted-by":"crossref","first-page":"e83","DOI":"10.1136\/jmg.2003.016402","article-title":"A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia","volume":"41","author":"Sabherwal","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib30","doi-asserted-by":"crossref","first-page":"37103","DOI":"10.1074\/jbc.M307006200","article-title":"The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes","volume":"279","author":"Marchini","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jpeds.2005.04.069_bib31","doi-asserted-by":"crossref","first-page":"4891","DOI":"10.1210\/jc.2003-030136","article-title":"Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature","volume":"88","author":"Binder","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jpeds.2005.04.069_bib32","doi-asserted-by":"crossref","first-page":"4403","DOI":"10.1210\/jc.2004-0591","article-title":"SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity","volume":"89","author":"Binder","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jpeds.2005.04.069_bib33","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1007\/BF00209476","article-title":"Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features","volume":"95","author":"Ogata","year":"1995","journal-title":"Hum Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib34","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1530\/eje.0.1490337","article-title":"Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function","volume":"149","author":"Fukami","year":"2003","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.jpeds.2005.04.069_bib35","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.38.1.1","article-title":"SHOX haploinsufficiency and overdosage: impact of gonadal function status","volume":"38","author":"Ogata","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib36","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1677\/joe.0.1730407","article-title":"Estrogen receptor-alpha and -beta are expressed throughout postnatal development in the rat and rabbit growth plate","volume":"173","author":"Nilsson","year":"2002","journal-title":"J Endocrinol"},{"key":"10.1016\/j.jpeds.2005.04.069_bib37","doi-asserted-by":"crossref","first-page":"47820","DOI":"10.1074\/jbc.M306685200","article-title":"Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX","volume":"278","author":"Blaschke","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jpeds.2005.04.069_bib38","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/S0889-8529(18)30284-6","article-title":"Turner Syndrome","volume":"20","author":"Lippe","year":"1991","journal-title":"Endocrinol Metab Clin North Am"},{"key":"10.1016\/j.jpeds.2005.04.069_bib39","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1007\/s00431-004-1471-4","article-title":"Wrist anomalies in Turner syndrome compared with Leri-Weill dyschondrosteosis: a new feature in Turner syndrome","volume":"163","author":"Tauber","year":"2004","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jpeds.2005.04.069_bib40","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1093\/hmg\/9.5.695","article-title":"The short stature homeobox gene SHOX is involved in skeletal abnormalities in turner syndrome","volume":"9","author":"Clement-Jones","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jpeds.2005.04.069_bib41","first-page":"147","article-title":"Dyschondrosteosis: clinical study of a sixth generation family","volume":"4","author":"Jackson","year":"1985","journal-title":"Proc Greenwood Genet Center"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347605004579?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347605004579?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T14:05:00Z","timestamp":1555423500000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347605004579"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10]]},"references-count":41,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,10]]}},"alternative-id":["S0022347605004579"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2005.04.069","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2005,10]]}}}