Kabuki make-up syndrome

Known as: KABUKI SYNDROME 1, Niikawa-Kuroki syndrome, KMS 
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… (More)
National Institutes of Health

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1981-2018
010203019812018

Papers overview

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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… (More)
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2005
2005
Kabuki make-up syndrome (KMS; OMIM#147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause, first… (More)
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1998
1998
We describe a male patient with interstitial duplication of the short arm of chromosome 1 with breakpoints involving 1p13.1 and… (More)
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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… (More)
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1994
1994
A 2 year old girl who has Kabuki make-up syndrome with isolated premature thelarche is presented. She has unique ocular… (More)
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1994
1994
Although susceptibility to infections in Kabuki make-up syndrome (KMS) has frequently been reported, there have been few… (More)
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1992
1992
A case report of a 3-year-old girl with Kabuki make-up syndrome (KMS) associated with anovestibular fistula is presented. To our… (More)
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1991
1991
Kabuki make-up syndrome (Niikawa-Kuroki syndrome), recognized in Japan in 1981, is characterized by mental and growth retardation… (More)
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1990
1990
The Niikawa-Kuroki "Kabuki Make-Up" syndrome is a rare sporadic malformation syndrome, characterised by severe psychomotor and… (More)
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Highly Cited
1981
Highly Cited
1981
A previously unrecognized mental retardation malformation syndrome was observed in five unrelated Japanese children. Consistent… (More)
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