case report | Q2782326 |
scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1110351675 |
P356 | DOI | 10.1186/S12881-018-0724-4 |
P932 | PMC publication ID | 6276138 |
P698 | PubMed publication ID | 30509212 |
P50 | author | Zhimei Guo | Q90221149 |
P2093 | author name string | Fang Liu | |
Hai Jun Li | |||
P2860 | cites work | Mutation 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 syndrome | Q59697631 | ||
A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A | Q87512849 | ||
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 | ||
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome | Q28256091 | ||
KDM6A point mutations cause Kabuki syndrome | Q28277325 | ||
Kabuki make-up syndrome and report of a case with hydrocephalus | Q32043269 | ||
Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency | Q34057213 | ||
A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation | Q34283519 | ||
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 patients | Q34685121 | ||
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development | Q35821188 | ||
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum | Q35837668 | ||
X-linked H3K27me3 demethylase Utx is required for embryonic development in a sex-specific manner | Q36167570 | ||
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 syndrome | Q43084995 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 1 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Kabuki syndrome | Q1538227 |
P304 | page(s) | 206 | |
P577 | publication date | 2018-12-03 | |
P1433 | published in | BMC Medical Genetics | Q15759918 |
P1476 | title | Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report | |
P478 | volume | 19 |
Q93074691 | Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics | cites work | P2860 |
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