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23. Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. D'Asdia MC; Torrente I; Consoli F; Ferese R; Magliozzi M; Bernardini L; Guida V; Digilio MC; Marino B; Dallapiccola B; De Luca A Eur J Med Genet; 2013 Feb; 56(2):80-7. PubMed ID: 23220543 [TBL] [Abstract][Full Text] [Related]
24. Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings. Peraita-Ezcurra M; Martínez-García M; Ruiz-Pérez VL; Sánchez-Gutiérrez ME; Fenollar-Cortés M; Vélez-Monsalve C; Ramos-Corrales C; Pastor I; Santonja C; Trujillo-Tiebas MJ Gene; 2012 May; 499(1):223-5. PubMed ID: 22406498 [TBL] [Abstract][Full Text] [Related]
25. [From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome]. van Hagen JM; Baart JA; Gille JJ Ned Tijdschr Geneeskd; 2005 Apr; 149(17):929-31. PubMed ID: 15884406 [TBL] [Abstract][Full Text] [Related]
26. Kaufman syndrome (hydrometrocolpos, polydactyly, and congenital heart disease) with pituitary dysplasia, choanal atresia, and vertebral anomalies. Knowles JC; Brandt IK; Bull MJ Am J Med Genet; 1981; 8(4):389-93. PubMed ID: 7246610 [TBL] [Abstract][Full Text] [Related]
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28. Prenatal ultrasonic diagnosis of a case of Ellis-van Creveld syndrome with a single atrium. Horigome H; Hamada H; Sohda S; Oyake Y; Kurosaki Y Pediatr Radiol; 1997 Dec; 27(12):942-4. PubMed ID: 9388288 [TBL] [Abstract][Full Text] [Related]
29. Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome. Goecke T; Dopfer R; Huenges R; Conzelmann W; Feller A; Majewski F Eur J Pediatr; 1981 Jul; 136(3):297-305. PubMed ID: 7262101 [TBL] [Abstract][Full Text] [Related]
30. Abdominal distension in Kaufman-McKusick syndrome. Farrell SA; Davidson RG; DeMaria JE; Grant L; Toi A Am J Med Genet; 1986 Oct; 25(2):205-10. PubMed ID: 3535500 [TBL] [Abstract][Full Text] [Related]
31. Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. Digilio MC; Marino B; Giannotti A; Dallapiccola B Pediatr Cardiol; 1997; 18(1):74-5. PubMed ID: 8960501 [No Abstract] [Full Text] [Related]
32. Ellis-Van Creveld syndrome with syndrome X--a rare association from the Indian subcontinent. Shamas MN; Zaman RS; Mir S; Masoodi I; Ganie MA J Pediatr Endocrinol Metab; 2010; 23(1-2):189-92. PubMed ID: 20432822 [TBL] [Abstract][Full Text] [Related]
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34. Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome? Fryns JP; Moerman P J Med Genet; 1993 Apr; 30(4):322-4. PubMed ID: 8487282 [TBL] [Abstract][Full Text] [Related]
35. Ellis-van Creveld syndrome in a patient from Tanzania. Dekker MCJ; Sadiq AM; Jusabani MA; Mdavire VJ; Baas F; Morton DH; Hamel BCJ Am J Med Genet A; 2019 Oct; 179(10):2034-2038. PubMed ID: 31350806 [TBL] [Abstract][Full Text] [Related]
36. The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease. Robinow M; Shaw A J Pediatr; 1979 May; 94(5):776-8. PubMed ID: 448491 [No Abstract] [Full Text] [Related]
37. Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases. O'Connor MJ; Rider NL; Thomas Collins R; Hanna BD; Holmes Morton D; Strauss KA Cardiol Young; 2011 Apr; 21(2):145-52. PubMed ID: 21070693 [TBL] [Abstract][Full Text] [Related]
39. Ultrasound-guided fluid aspiration and prenatal diagnosis of duplicated hydrometrocolpos with uterus didelphys and septate vagina. Chen CP; Liu FF; Jan SW; Chang PY; Lin YN; Lan CC Prenat Diagn; 1996 Jun; 16(6):572-6. PubMed ID: 8809902 [TBL] [Abstract][Full Text] [Related]
40. Late survival in Ellis-van Creveld syndrome - a case report. Mishra T; Routray SN; Das B Indian Heart J; 2012; 64(4):408-11. PubMed ID: 22929827 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]