Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.
about
Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberrationCoarctation of the aorta in Kabuki syndromeSpectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeExome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeCardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report.Kabuki syndrome: clinical and molecular characteristicsDeletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndromeKDM6A point mutations cause Kabuki syndromeCoats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome).BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndromeAutoimmune haematological disorders in two Italian children with Kabuki syndromeEpigenetic control of the immune system: a lesson from Kabuki syndrome.Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.Genetic landmarks through philately--Kabuki theater and Kabuki syndrome.The H3K27me3 demethylase UTX in normal development and disease.Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM).Partial anomalous left pulmonary artery along with aortic coarctation in an infant with Kabuki syndrome.A mutation screen in patients with Kabuki syndrome.Hypothalamic pituitary complications in Kabuki syndrome.Congenital heart defects in Kabuki syndrome.Unmasking Kabuki syndrome.Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome).Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumThe strong association of left-side heart anomalies with Kabuki syndromeFailure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 MutationThe necessity for in vivo functional analysis in human medical genetics.Kabuki syndrome: diagnostic and treatment considerations.Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.Epigenetics, autism spectrum, and neurodevelopmental disorders.A novel KMT2D mutation resulting in Kabuki syndrome: A case report.Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature ReviewKabuki syndrome and perisylvian cortical dysplasia in a Turkish girl.Kabuki syndrome revisited.Histone-modifying enzymes: regulators of developmental decisions and drivers of human disease.
P2860
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P2860
Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.
description
1981 nî lūn-bûn
@nan
1981 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1981 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1981年の論文
@ja
1981年論文
@yue
1981年論文
@zh-hant
1981年論文
@zh-hk
1981年論文
@zh-mo
1981年論文
@zh-tw
1981年论文
@wuu
name
Kabuki make-up syndrome: a syn ...... d postnatal growth deficiency.
@ast
Kabuki make-up syndrome: a syn ...... d postnatal growth deficiency.
@en
Kabuki make-up syndrome: a syn ...... d postnatal growth deficiency.
@nl
type
label
Kabuki make-up syndrome: a syn ...... d postnatal growth deficiency.
@ast
Kabuki make-up syndrome: a syn ...... d postnatal growth deficiency.
@en
Kabuki make-up syndrome: a syn ...... d postnatal growth deficiency.
@nl
prefLabel
Kabuki make-up syndrome: a syn ...... d postnatal growth deficiency.
@ast
Kabuki make-up syndrome: a syn ...... d postnatal growth deficiency.
@en
Kabuki make-up syndrome: a syn ...... d postnatal growth deficiency.
@nl
P2093
P1476
Kabuki make-up syndrome: a syn ...... d postnatal growth deficiency.
@en
P2093
P304
P356
10.1016/S0022-3476(81)80255-7
P407
P577
1981-10-01T00:00:00Z