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DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. [PDF]
Eur J Hum GenetNiceta M +23 more
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Holoprosencephaly in Kabuki syndrome
American Journal of Medical Genetics Part A, 2019AbstractKabuki syndrome is a rare, multi‐systemic disorder of chromatin regulation due to mutations in either KMT2D or KDM6A that encode a H3K4 methyltransferase and an H3K27 demethylase, respectively. The associated clinical phenotype is a direct result of temporal and spatial changes in gene expression in various tissues including the brain. Although
Tara Daly +4 more
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Clinical Genetics, 2004
Kabuki syndrome (KS) (Kabuki make‐up syndrome, Niikawa–Kuroki syndrome) is a multiple malformation/mental retardation syndrome that was described initially in Japan but is now known to occur in many other ethnic groups. It is characterized by distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows with the lateral one‐third ...
M P, Adam, L, Hudgins
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Kabuki syndrome (KS) (Kabuki make‐up syndrome, Niikawa–Kuroki syndrome) is a multiple malformation/mental retardation syndrome that was described initially in Japan but is now known to occur in many other ethnic groups. It is characterized by distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows with the lateral one‐third ...
M P, Adam, L, Hudgins
openaire +2 more sources
Journal of Pediatric Ophthalmology & Strabismus, 2009
Kabuki syndrome is a mental retardation–malformation syndrome affecting multiple organ systems. The typical facies resembles the make-up worn in Japanese Kabuki theater. Although there are several clinical findings, the ocular findings affecting vision have been underreported.
Pradeep, Sharma, Vivek, Dave
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Kabuki syndrome is a mental retardation–malformation syndrome affecting multiple organ systems. The typical facies resembles the make-up worn in Japanese Kabuki theater. Although there are several clinical findings, the ocular findings affecting vision have been underreported.
Pradeep, Sharma, Vivek, Dave
openaire +2 more sources
Hypoglycemia in Kabuki syndrome
American Journal of Medical Genetics Part A, 2013AbstractKabuki syndrome (KS) is a congenital malformation disorder with a spectrum of clinical manifestations involving different organs. Until the identification of MLL2 gene mutation in 2010, the diagnosis was made only clinically by the characteristic facial features with other common and uncommon features. Hypoglycemia, although an uncommon feature
Anbezhil, Subbarayan, Khalid, Hussain
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Clinical Genetics, 2013
The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light on the pathogenesis of this well‐delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability.
N, Bögershausen, B, Wollnik
exaly +3 more sources
The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light on the pathogenesis of this well‐delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability.
N, Bögershausen, B, Wollnik
exaly +3 more sources
Otolaryngologic manifestations of kabuki syndrome
International Journal of Pediatric Otorhinolaryngology, 1997A review of clinical findings in 12 children with Kabuki syndrome revealed a high prevalence of otolaryngologic problems, including dysmorphic pinnae (100%), ear disease (92%), hearing loss (82%) and airway problems (58%). The high prevalence of ear disease and hearing loss was not explained solely on the basis of prevalence of cleft palate.
Anil Lalwani +2 more
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Hepatic fibrosis in Kabuki syndrome
American Journal of Medical Genetics Part A, 2003AbstractKabuki (Niikawa–Kuroki) syndrome (KS) is characterized by a distinctive face, mental retardation, growth deficiency, skeletal anomalies, dermatoglyphic abnormalities, palatal anomalies, congenital heart defects, and urogenital malformations.
Valerio, Nobili +5 more
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