Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report

scientific article published on 03 December 2018

Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

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P6179Dimensions Publication ID1110351675
P356DOI10.1186/S12881-018-0724-4
P932PMC publication ID6276138
P698PubMed publication ID30509212

P50authorZhimei GuoQ90221149
P2093author name stringFang Liu
Hai Jun Li
P2860cites workMutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.Q50504852
Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.Q52950613
MLL2 and KDM6A mutations in patients with Kabuki syndromeQ59697631
A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6AQ87512849
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeQ24622470
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndromeQ28256091
KDM6A point mutations cause Kabuki syndromeQ28277325
Kabuki make-up syndrome and report of a case with hydrocephalusQ32043269
Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiencyQ34057213
A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardationQ34283519
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.Q34522233
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patientsQ34685121
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain developmentQ35821188
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumQ35837668
X-linked H3K27me3 demethylase Utx is required for embryonic development in a sex-specific mannerQ36167570
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).Q38188009
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndromeQ43084995
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectKabuki syndromeQ1538227
P304page(s)206
P577publication date2018-12-03
P1433published inBMC Medical GeneticsQ15759918
P1476titleNovel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report
P478volume19

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Q93074691Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnosticscites workP2860

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