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Kaufman-McKusick syndrome

Known as: McKusick Kaufman syndrome, Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation, Hydrometrocolpos syndrome 
National Institutes of Health

Related topics

Related topics

21 relations
Atresia of vaginaAutosomal recessive inheritanceCongenital heart diseaseCryptorchidism

Broader (5)

Congenital Heart DefectsHydrocolposMultiple congenital anomaliesPolydactyly

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Vaccination against tuberculosis: how can we better BCG?
Highly Cited
2012
Highly Cited
2012
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
Cilia are highly specialized microtubule-based organelles that have pivotal roles in numerous biological processes, including… 
Highly Cited
2010
Highly Cited
2010
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population
Background Bardet–Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and… 
Highly Cited
2010
Highly Cited
2010
Donor risk factors for graft failure in a 20-year study of penetrating keratoplasty.
OBJECTIVE To determine donor risk factors for graft failure and late endothelial failure (LEF) 20 years after penetrating… 
Highly Cited
2008
Highly Cited
2008
A novel founder BBS1 mutation explains a unique high prevalence of Bardet–Biedl syndrome in the Faroe Islands
Background/aim: Bardet–Biedl syndrome is a multiorgan disease presenting with retinitis pigmentosa leading to blindness. The aim… 
Highly Cited
2005
Highly Cited
2005
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.
McKusick-Kaufman syndrome (MKS) is an autosomal recessive disorder characterized by post-axial polydactyly, congenital heart… 
Highly Cited
2003
Highly Cited
2003
Further support for digenic inheritance in Bardet-Biedl syndrome
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterised by the primary features of obesity, retinal… 
Highly Cited
2001
Highly Cited
2001
Heat moisture treatment of high amylose cornstarch increases its resistant starch content but not its physiologic effects in rats.
To examine whether the physiologic effects of high amylose cornstarch (HACS) are affected by gelatinization or heat moisture… 
Review
1999
Review
1999
Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases
We report a Japanese family with dyschromatosis symmetrica hereditaria (DSH) (MIM 127400 in McKusick's Mendelian Inheritance in… 
Highly Cited
1996
Highly Cited
1996
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
Pfeiffer syndrome (PS; McKusick MIM 101600) is an autosomal dominant craniosynostosis syndrome with characteristic craniofacial… 
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