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kw.\*:("Enanismo campomélico")

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Differentiating campomelic dysplasia from cumming syndromeWATIKER, Valerie; LACHMAN, Ralph S; WILCOX, William R et al.LACHMAN, Ralph S; WILCOX, William R et al.LACHMAN, Ralph S; American journal of medical genetics. 2005, Vol 135A, Num 1, pp 110-112, issn 0148-7299, 3 p.Article

Acampomelic campomelic dysplasiaMACPHERSON, R. I; SKINNER, S. A; DONNENFELD, A. E et al.Pediatric radiology. 1989, Vol 20, Num 1-2, pp 90-93, issn 0301-0449Article

Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theoriesPAZZAGLIA, U. E; BELUFFI, G.Pediatric radiology. 1987, Vol 17, Num 1, pp 50-55, issn 0301-0449Article

Sex-reversed Acampomelic Campomelic Dysplasia With a Homozygous Deletion Mutation in SOX9 GeneCHEN, Shou-Yen; LIN, Shio-Jean; TSAI, Li-Ping et al.Urology (Ridgewood, NJ). 2012, Vol 79, Num 4, pp 908-911, issn 0090-4295, 4 p.Article

Orthopaedic manifestations of campomelic dysplasia : Genetics of childhood diseasesKHOSHHAL, Khalid; LETTS, R. Mervyn.Clinical orthopaedics and related research. 2002, Num 401, pp 65-74, issn 0009-921XArticle

A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversalCAMERON, F. J; HAGEMAN, R. M; COOKE-YARBOROUGH, C et al.Human molecular genetics (Print). 1996, Vol 5, Num 10, pp 1625-1630, issn 0964-6906Article

Management of maxillofacial deformities in a patient with campomelic dysplasiaMINTZ, S. M; ADIBFAR, A.Journal of oral and maxillofacial surgery. 1994, Vol 52, Num 6, pp 618-623, issn 0278-2391Article

Kyphomelic dysplasia : A report of a family with an autosomal dominant patternTOLEDO, C; NAVARRO-BARROS, R; ALBA, L et al.Annales de génétique (Paris). 1999, Vol 42, Num 3, pp 170-173, issn 0003-3995Conference Paper

Osteogenesis imperfecta and campomelic dysplasia : difficulties in prenatal diagnosisSANDERS, R. C; GREYSON-FLEG, R. T; HOGGE, W. A et al.Journal of ultrasound in medicine. 1994, Vol 13, Num 9, pp 691-700, issn 0278-4297Article

Campomelic syndrome: concepts of the bowing and shortening in the lower limbsLAZJUK, G. I; SHVED, I. A; CHERSTVOY, E. D et al.Teratology (Philadelphia, PA). 1987, Vol 35, Num 1, pp 1-8, issn 0040-3709Article

Acampomelic Form of Campomelic Dysplasia with SOX9 Missense MutationGOPAKUMAR, Hariharan; SUPERTI-FURGA, Andrea; UNGER, Sheila et al.Indian journal of pediatrics. 2014, Vol 81, Num 1, pp 98-100, issn 0019-5456, 3 p.Article

New insights in congenital bowing of the femoraCORMIER-DAIRE, V; GENEVIEVE, D; MUNNICH, A et al.Clinical genetics. 2004, Vol 66, Num 3, pp 169-176, issn 0009-9163, 8 p.Article

The phenotype of survivors of campomelic dysplasiaMANSOUR, S; OFFIAH, A. C; MCDOWALL, S et al.Journal of medical genetics. 2002, Vol 39, Num 8, pp 597-602, issn 0022-2593Article

Prenatal diagnosis of campomelic dysplasiaTONGSONG, T; WANAPIRAK, C; PONGSATHA, S et al.Ultrasound in obstetrics & gynecology. 2000, Vol 15, Num 5, pp 428-430, issn 0960-7692Article

Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversalCHENI KWOK; WELLER, P. A; GOODFELLOW, P. N et al.American journal of human genetics. 1995, Vol 57, Num 5, pp 1028-1036, issn 0002-9297Article

Long-term follow up of a case of kyphomelic dysplasiaMAFFULLI, N; BLAKEWAY, C; FIXSEN, J. A et al.Orthopedics (Thorofare). 1993, Vol 16, Num 1, pp 86-89, issn 0147-7447Article

No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasiaEBENSPERGER, C; JÄGER, R. J; LATTERMANN, U et al.Annales de génétique (Paris). 1991, Vol 34, Num 3-4, pp 233-238, issn 0003-3995Article

Mutation Analysis of SOX9 and Single Copy Number Variant Analysis of the Upstream Region in Eight Patients With Campomelic Dysplasia and Acampomelic Campomelic DysplasiaWADA, Yuka; NISHIMURA, Gen; OGATA, Tsutomu et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 12, pp 2882-2885, issn 1552-4825, 4 p.Article

Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimesterMICHEL-CALEMARD, Laurence; LESCA, Gaëtan; MOREL, Yves et al.Prenatal diagnosis. 2004, Vol 24, Num 7, pp 519-523, issn 0197-3851, 5 p.Article

Campomelic syndrome and deletion of SOX9OLNEY, P. N; KEAN, L. S; GRAHAM, D et al.American journal of medical genetics. 1999, Vol 84, Num 1, pp 20-24, issn 0148-7299Article

Sex-determining genesMCELREAVEY, K; FELLOUS, M.Trends in endocrinology and metabolism. 1997, Vol 8, Num 9, pp 342-346, issn 1043-2760Article

Kampomeles Syndrom. Eine ungewöhnliche Assoziation von Fehlbildungen = Camponelic syndrome: An unusual association of malformationsREICHENBACH, H; DALITZ, E; THEILE, H et al.Monatsschrift für Kinderheilkunde. 1994, Vol 142, Num 9, pp 669-672, issn 0026-9298Conference Paper

Campomelic Dysplasia : Echographic Suspicion in the First Trimester of Pregnancy and Final Diagnosis of Two CasesMASSARDIER, J; ROTH, P; MICHEL-CALEMARD, L et al.Fetal diagnosis and therapy. 2008, Vol 24, Num 4, pp 452-457, issn 1015-3837, 6 p.Article

A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia : a case of mitotic gene conversionPOP, Ramona; ZARAGOZA, Michael V; GAUDETTE, Mara et al.Human genetics. 2005, Vol 117, Num 1, pp 43-53, issn 0340-6717, 11 p.Article

A clinical and genetic study of campomelic dysplasiaMANSOUR, S; HALL, C. M; PEMBREY, M. E et al.Journal of medical genetics. 1995, Vol 32, Num 6, pp 415-420, issn 0022-2593Article

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