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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.
Highly Cited
2015
Highly Cited
2015
Spherical nitrogen-doped hollow mesoporous carbon as an efficient bifunctional electrocatalyst for Zn-air batteries.
Materials based upon porous carbon have gained considerable attention due to their high surface area, electric conductivity… 
2014
2014
Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with significant genetic heterogeneity. BBS is linked to mutations… 
Highly Cited
2009
Highly Cited
2009
Puzzle films : complex storytelling in contemporary cinema
Introduction: Puzzle Plots: Warren Buckland. 1. The Mind-Game Film: Thomas Elsaesser. 2. Making Sense of Lost Highway : Warren… 
2008
2008
Estimating the Economic Value of Rice (Oryza Sativa L.) as a Function of Harvest Moisture Content
The net value (NV) of rice, as affected by drying costs and milling quality changes associated with harvesting rice at various… 
2005
2005
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick–Kaufman syndrome
It has been hypothesized that two mutations in one gene are not sufficient and that three mutations between two genes are… 
2004
2004
Radiometric saturation of Landsat-7 ETM+ data over the Negev Desert (Israel): problems and solutions
2003
2003
Development and implementation of a cross-border HIV prevention intervention for injection drug users in Ning Ming County (Guangxi Province), China and Lang Son Province, Vietnam
Review
2001
Review
2001
The molecular genetics of Bardet-Biedl syndrome.
1977
1977
Corneal preservation: recent advances.
Review
1966
Review
1966
Heritable Disorders of Connective Tissue (ed 3).
Dr. Victor McKusick is a past master at providing comprehensive reviews of important medical subjects. He obviously still… 
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