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2025

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1992 1
1994 2
1996 1
1999 1
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2004 1
2005 1
2007 2
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2016 1
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2025 0

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Page 1
Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.
Slavotinek AM, Biesecker LG. Slavotinek AM, et al. Am J Med Genet. 2000 Nov 27;95(3):208-15. Am J Med Genet. 2000. PMID: 11102925 Review.
Hydrometrocolpos (HMC) and post-axial polydactyly (PAP) are common to both McKusick-Kaufman syndrome (MKS) and Bardet-Biedl syndrome (BBS). We review reported cases of MKS and BBS presenting with HMC and PAP early in life to determine if there are clinical fe …
Hydrometrocolpos (HMC) and post-axial polydactyly (PAP) are common to both McKusick-Kaufman syndrome (MKS) and Bardet-B …
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M. Baujat G, et al. Orphanet J Rare Dis. 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. Orphanet J Rare Dis. 2007. PMID: 17547743 Free PMC article. Review.
Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. ...
Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrom …
The retinal ciliopathies.
Adams NA, Awadein A, Toma HS. Adams NA, et al. Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424. Ophthalmic Genet. 2007. PMID: 17896309 Review.
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Joubert syndrome, Barde …
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, …
McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature.
Pul N, Pul M, Gedik Y. Pul N, et al. Am J Med Genet. 1994 Feb 1;49(3):341-3. doi: 10.1002/ajmg.1320490320. Am J Med Genet. 1994. PMID: 8209897 Review.
A female infant with McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula is presented. ...
A female infant with McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula …
The molecular genetics of Bardet-Biedl syndrome.
Sheffield VC, Nishimura D, Stone EM. Sheffield VC, et al. Curr Opin Genet Dev. 2001 Jun;11(3):317-21. doi: 10.1016/s0959-437x(00)00196-9. Curr Opin Genet Dev. 2001. PMID: 11377969 Review.
One BBS gene (MKKS) has been identified and the form of the disorder caused by this gene is allelic to McKusick-Kaufman syndrome. MKKS codes for a putative chaperonin, suggesting that other BBS genes may also code for components of chaperone complexes or be s …
One BBS gene (MKKS) has been identified and the form of the disorder caused by this gene is allelic to McKusick-Kaufman syn
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis.
Behera M, Couchman G, Walmer D, Price TM. Behera M, et al. Obstet Gynecol Surv. 2005 Jul;60(7):453-61. doi: 10.1097/01.ogx.0000165265.01778.55. Obstet Gynecol Surv. 2005. PMID: 15995562 Review.
We also review rare syndromes associated with Mullerian anomalies, including Mullerian hypoplasia/aplasia-renal agenesis-cervicothoracic somite dysplasia (MURCS), Roberts syndrome, Bardet-Biedl syndrome (BBS), McKusick-Kaufman syndrome (MKS), Wolf-Hirschhorn …
We also review rare syndromes associated with Mullerian anomalies, including Mullerian hypoplasia/aplasia-renal agenesis-cervicothoracic som …
The McKusick-Kaufman syndrome: phenotypic variation observed in familial cases as a clue for the evaluation of sporadic cases.
Lurie IW, Wulfsberg EA. Lurie IW, et al. Genet Couns. 1994;5(3):275-81. Genet Couns. 1994. PMID: 7811428 Review.
The characteristic clinical picture of the McKusick-Kaufman syndrome was observed in a girl of Belorussian background. A supernumerary nipple was the only finding not previously described in reported familial cases of this syndrome. ...For this reason we feel …
The characteristic clinical picture of the McKusick-Kaufman syndrome was observed in a girl of Belorussian background. …
15 results