Hydrometrocolpos and polydactyly : a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromesDAVID, A; BITOUN, P; LACOMBE, D et al.Journal of medical genetics. 1999, Vol 36, Num 8, pp 599-603, issn 0022-2593Article

McKusick-Kaufman syndrome (report of an instructive family)VINCE, J. D; MARTIN, N. J.American journal of medical genetics. 1989, Vol 32, Num 2, pp 174-177, issn 0148-7299Article

Rare syndromes. The Kaufman-McKusick syndrome: a review of the 44 cases reported in the literatureCANTANI, A; TACCONI, M. L; BENINCORI, N et al.Annales de génétique (Paris). 1987, Vol 30, Num 2, pp 70-74, issn 0003-3995Article

Anaesthetic management in McKusick-Kaufman syndromeTEKIN, Idil; OK, Gulay; GENC, Abdulkadir et al.Paediatric anaesthesia (Paris). 2003, Vol 13, Num 2, pp 167-170, issn 1155-5645, 4 p.Article

Kaufman oculocerebrofacial syndrome in a girl of 15 yearsBRISCIOLI, V; MANOUKIAN, S; SELICORNI, A et al.American journal of medical genetics. 1995, Vol 58, Num 1, pp 21-23, issn 0148-7299Article

EDITORIAL COMMENT: KAUFMAN SYNDROMEHALL JG.1981; AM. J. MED. GENET.; ISSN 0148-7299; USA; DA. 1981; VOL. 8; NO 4; PP. 395-396; BIBL. 3 REF.Article

KAUFMAN OCULOCEREBROFACIAL SYNDROMEJURENKA SB; EVANS J.1979; AMER. J. MED. GENET.; USA; DA. 1979; VOL. 3; NO 1; PP. 15-19; BIBL. 2 REF.Article

Anabaptist Genealogy DatabaseAGARWALA, Richa; BIESECKER, Leslie G; SCHÄFFER, Alejandro A et al.American journal of medical genetics. 2003, Vol 121C, Num 1, pp 32-37, issn 0148-7299, 6 p.Article

KAUFMAN SYNDROME (HYDROMETROCOLPOS, POLYDACTYLY, AND CONGENITAL HEART DISEASE) WITH PITUITARY DYSPLASIA, CHOANAL ATRESIA, AND VERTEBRAL ANOMALIESKNOWLES JC; BRANDT IK; BULL MJ et al.1981; AM. J. MED. GENET.; ISSN 0148-7299; USA; DA. 1981; VOL. 8; NO 4; PP. 389-393; BIBL. 16 REF.Article

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndromeSTONE, D. L; SLAVOTINEK, A; BOUFFARD, G. G et al.Nature genetics. 2000, Vol 25, Num 1, pp 79-82, issn 1061-4036Article

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndromeKATSANIS, Nicholas; BEALES, Philip L; WOODS, Michael O et al.Nature genetics. 2000, Vol 26, Num 1, pp 67-70, issn 1061-4036Article

McKusick-Kaufman syndrome : the diagnostic challenge of abdominal distension in the neonatal periodSCHAAP, C; DE DIE-SMULDERS, C. E. M; KUIJTEN, R. H et al.European journal of pediatrics. 1992, Vol 151, Num 8, pp 583-585, issn 0340-6199Conference Paper

McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow upGAUCHERAND, Pascal; VAVASSEUR-MONOT, Chantal; OLLAGNON, Elizabeth et al.Prenatal diagnosis. 2002, Vol 22, Num 11, pp 1048-1050, issn 0197-3851, 3 p.Article

No evidence for triallelic inheritance of MKKS/BBS loci in amish mckusick-kaufman syndromeNAKANE, Takaya; BIESECKER, Leslie G.American journal of medical genetics. 2005, Vol 138A, Num 1, pp 32-34, issn 0148-7299, 3 p.Article

Fetal Urogenital Sinus with Consecutive Hydrometrocolpos because of Labial Fusion : Prenatal Diagnostic Difficulties and Postpartal Therapeutic ManagementPUHL, A. G; STEINER, E; KRÄMER, W. W et al.Fetal diagnosis and therapy. 2008, Vol 23, Num 4, pp 287-292, issn 1015-3837, 6 p.Article

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: Genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?SLAVOTINEK, Anne M; DUTRA, Amalia; KPODZO, Dzifa et al.American journal of medical genetics. 2004, Vol 129A, Num 1, pp 69-72, issn 0148-7299, 4 p.Article