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Kabuki make-up syndrome

Known as: KABUKI SYNDROME 1, Niikawa-Kuroki syndrome, Kabuki Syndrome 
A rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It… Expand
National Institutes of Health

Papers overview

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Highly Cited
2014
Highly Cited
2014
Kabuki syndrome (KS) is a multiple congenital anomalies syndrome characterized by characteristic facial features and varying… Expand
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Highly Cited
2013
Highly Cited
2013
Kabuki syndrome (KS) is a rare congenital anomaly syndrome characterized by a unique facial appearance, growth retardation… Expand
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Highly Cited
2013
Highly Cited
2013
Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial… Expand
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Highly Cited
2012
Highly Cited
2012
Kabuki syndrome (KS) is a rare genetic disease that causes developmental delay and congenital anomalies. Since the identification… Expand
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Highly Cited
2011
Highly Cited
2011
Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies… Expand
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Highly Cited
2011
Highly Cited
2011
Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in… Expand
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Highly Cited
2010
Highly Cited
2010
We demonstrate the successful application of exome sequencing to discover a gene for an autosomal dominant disorder, Kabuki… Expand
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Highly Cited
2008
Highly Cited
2008
OBJECTIVE To analyze the different factors affecting the outcome of transnasal endoscopic repair of choanal atresia (CA) in… Expand
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Highly Cited
1999
Highly Cited
1999
OBJECTIVE To report the phenotypic spectrum and management issues of children with Kabuki syndrome (Niikawa-Kuroki syndrome) from… Expand
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1997
1997
We report on a total of 4 individuals in 2 families with Kabuki make-up syndrome. In family 1, the proposita, a 2 4/12-year-old… Expand
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