1. Arena F, Cordaro S, Romeo C, Scalfari G, Gitto L, Barbalace M, Romeo G
McKusick-Kaufman syndrome: diagnostic and therapeutic problems
Pediatr Med Chir 1999 Mar-Apr;21(2):67-71

2. Cantani A, Santillo C, Cozzi F
McKusick-Kaufman syndrome: report of the 66th case complicated by a staphyloma of the left eye
Padiatr Padol 1991;26(4):193-6

3. Cantani A, Tacconi ML, Benincori N, Picarazzi A, Ceccoli D, Gaudino S
Rare syndromes. The Kaufman-McKusick syndrome. A review of the 44 cases reported in the literature
Ann Genet 1987;30(2):70-4

4. Castel Y, Toudic L, Alix D, Le Guern H, Colin A
Postaxial polydactyly in a female neonate associated with hydrocolpos due to vaginal atresia and with a congenital cardiopathy: the McKusick-Kaufman syndrome
J Genet Hum 1982 Nov;30(4):329-37

5. Castel Y, Toudic L, Alix D, Le Guern H, Colin A, Lavaud J, Le Gouguec C
McKusick-Kaufman syndrome in a new born girl
Arch Fr Pediatr 1982 Jan;39(1):3-7

6. Chen CP, Liu FF, Jan SW, Chang PY, Lin YN, Lan CC
Ultrasound-guided fluid aspiration and prenatal diagnosis of duplicated hydrometrocolpos with uterus didelphys and septate vagina
Prenat Diagn 1996 Jun;16(6):572-6

7. Chitayat D, Hahm SY, Marion RW, Sachs GS, Goldman D, Hutcheon RG, Weiss R, Cho S, Nitowsky HM
Further delineation of the McKusick-Kaufman hydrometrocolpos-polydactyly syndrome
Am J Dis Child 1987 Oct;141(10):1133-6

8. Cohen E, Javitt MC
Term pregnancy in a patient with McKusick-Kaufman syndrome
AJR Am J Roentgenol 1998 Jul;171(1):273-4

9. Cuyler JP, Giovanetto DR
Acute respiratory failure secondary to a complete tracheal ring
J Otolaryngol 1992 Feb;21(1):54-5

10. Davenport M, Taitz LS, Dickson JA
The Kaufman-McKusick syndrome: another association
J Pediatr Surg 1989 Nov;24(11):1192-4

11. David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A, Vigneron J, Verloes A
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick- Kaufman syndromes
J Med Genet 1999 Aug;36(8):599-603

12. Digilio MC, Marino B, Ammirati A, Borzaga U, Giannotti A, Dallapiccola B
Cardiac malformations in patients with oral-facial- skeletal syndromes: clinical similarities with heterotaxia
Am J Med Genet 1999 Jun 4;84(4):350-6

13. Digilio MC, Marino B, Giannotti A, Dallapiccola B
Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes
Pediatr Cardiol 1997 Jan-Feb;18(1):74-5

14. Farrell SA, Davidson RG, DeMaria JE, Grant L, Toi A
Abdominal distension in Kaufman-McKusick syndrome
Am J Med Genet 1986 Oct;25(2):205-10

15. Franke B, Missbach D, Romer KH
McKusick-Kaufman syndrome as a cause of acute abdomen in the neonatal period
Zentralbl Chir 1988;113(4):254-8

16. Gaucherand P, Vavasseur-Monot C, Ollagnon E, Boisson C, Labaune JM, Basset T, Yared G
McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up
Prenat Diagn 2002 Nov;22(11):1048-50

17. Gonzalez de Dios J, Garcia-Alix A, Cabanas F, Perez Rodriguez J, Quero Jimenez J
McKusick-Kaufman syndrome: manifestation of hydrometrocolpos
An Esp Pediatr 1992 Mar;36(3):242-5

18. Hamel BC, ter Haar BG
Hydrometrocolpos, polydactylia and congenital heart defect (the McKusick-Dungy-Kaufman syndrome)
Tijdschr Kindergeneeskd 1984 Aug;52(4):129-33

19. el Hammar F, Dubreuil M, Benoit I, Meymat Y
A difficult intubation of an infant with McKusick- Kaufman syndrome. Failure of the laryngeal mask- fibroscope sequence
Ann Fr Anesth Reanim 1998;17(3):240-2

20. Hsu YR, Chuang JH, Huang CB, Changchien CC
The McKusick-Kaufman hydrometrocolpos- polydactyly syndrome--a case report
Changgeng Yi Xue Za Zhi 1994 Jun;17(2):173-7

21. Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
Nat Genet 2000 Sep;26(1):67-70

22. Kotiloglu E, Kaya H, Guney I, Balci S
The Mckusick-Kaufman syndrome: report of a case with some associations
Turk J Pediatr 2002 Apr-Jun;44(2):176-9

23. Kumar D, Primhak RA, Kumar A
Variable phenotype in Kaufman-McKusick syndrome: report of an inbred Muslim family and review of the literature
Clin Dysmorphol 1998 Jul;7(3):163-70

24. Lurie IW, Wulfsberg EA
The McKusick-Kaufman syndrome: phenotypic variation observed in familial cases as a clue for the evaluation of sporadic cases
Genet Couns 1994;5(3):275-81

25. Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
Nat Genet 2001 Jun;28(2):188-91

26. Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
Nat Genet 2002 Aug;31(4):435-8

27. Neal R
American, Korean Experts Gauge Impact of Genomics on Medical Practice
Focus - News from Harvard Medical, Dental & Public Health Schools 2001 Aug 10

28. Paredes Esteban RM, Ocana Losa JM, Pizarro de Celis F, Gutierrez Canto M, Vazquez Rueda F
The McKusick-Kaufman syndrome: a report of 5 new cases, including a male
An Esp Pediatr 1996 May;44(5):493-5

29. Pul N, Pul M, Gedik Y
McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature
Am J Med Genet 1994 Feb 1;49(3):341-3

30. Rosen RS, Bocian ME
Hydrops fetalis in the McKusick-Kaufman syndrome: a case report
Am J Obstet Gynecol 1991 Jul;165(1):102-3

31. Schaap C, de Die-Smulders CE, Kuijten RH, Fryns JP
McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period
Eur J Pediatr 1992 Aug;151(8):583-5

32. Schaap C, ten Tusscher MP, Schrander JJ, Kuijten RH, Schrander-Stumpel CT
Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes: are they related?
Eur J Pediatr 1998 Feb;157(2):170-1

33. Sheffield VC, Nishimura D, Stone EM
The molecular genetics of Bardet-Biedl syndrome
Curr Opin Genet Dev 2001 Jun;11(3):317-21

34. Simpson JL
Genetics of the female reproductive ducts
Am J Med Genet 1999 Dec 29;89(4):224-39

35. Slavotinek AM
McKusick-Kaufman Syndrome
GeneReviews Medline Searches 2002 Sep 10

36. Slavotinek AM, Biesecker LG
Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review
Am J Med Genet 2000 Nov 27;95(3):208-15

37. Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG
Mutation analysis of the MKKS gene in McKusick- Kaufman syndrome and selected Bardet-Biedl syndrome patients
Hum Genet 2002 Jun;110(6):561-7

38. Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG
Mutations in MKKS cause Bardet-Biedl syndrome
Nat Genet 2000, 26 (1):15-6

39. Stone DL, Agarwala R, Schaffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG
Genetic and physical mapping of the McKusick- Kaufman syndrome
Hum Mol Genet 1998 Mar;7(3):475-81

40. Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, Biesecker LG
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
Nat Genet 2000 May;25(1):79-82

41. Vince JD, Martin NJ
McKusick-Kaufman syndrome: report of an instructive family
Am J Med Genet 1989 Feb;32(2):174-7