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Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2013, Volume 161A, Issue 4, pp. 884 - 888
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 675 - 681
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes... 
BLEPHAROPHIMOSIS | DE-NOVO MUTATIONS | MENTAL-RETARDATION | CAUSE GENITOPATELLAR SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | OHDO SYNDROME | HISTONE ACETYLTRANSFERASE KAT6B | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Life Sciences | Human genetics
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 282 - 289
Genitopatellar syndrome (GPS) is a skeletal dysplasia with cerebral and genital anomalies for which the molecular basis has not yet been determined. By exome... 
STEM-CELLS | COACTIVATOR | PROTEIN | ANOMALIES | GENETICS & HEREDITY | PHENOTYPE | TUMOR | LMX1B | IDENTIFICATION | ABSENT PATELLAE | FEMALE | Blepharoptosis - genetics | Blepharophimosis - enzymology | Humans | Urogenital Abnormalities - enzymology | Histone Acetyltransferases - genetics | Male | Bone Diseases, Developmental - genetics | Cerebellum - abnormalities | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Rubinstein-Taybi Syndrome - genetics | Epigenomics - methods | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Intellectual Disability - enzymology | Female | Rubinstein-Taybi Syndrome - enzymology | Musculoskeletal Abnormalities - enzymology | Abnormalities, Multiple - genetics | Mice, Inbred C57BL | Phenotype | Animals | Bone Diseases, Developmental - enzymology | Musculoskeletal Abnormalities - genetics | Abnormalities, Multiple - enzymology | Heterozygote | Mice | Mutation | Sequence Analysis, DNA - methods | Urogenital Abnormalities - genetics | Brain | Dysplasia | Usage | Genetic disorders | Gene mutations | Exome sequencing | Physiological aspects | Causes of | Genetic aspects | Research | Histones | Analysis | Genomics | Medical genetics | Proteins | Rodents | Epigenetics | Genetic research | Gene expression | Cells | Report
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 04/2014, Volume 164, Issue 4, pp. 950 - 957
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder caused by mutations in FOXL2. We identified an individual with... 
NOONAN SYNDROME | BPES | MENTAL-RETARDATION | ptosis | OHDO SYNDROME | FOXL2 | HISTONE ACETYLTRANSFERASE KAT6B | AUTISM SPECTRUM DISORDERS | KABUKI SYNDROME | blepharophimosis | whole exome sequencing | DE-NOVO MUTATIONS | KAT6B | CAUSE GENITOPATELLAR SYNDROME | GENETICS & HEREDITY | epicanthus inversus
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 58, Issue 10, pp. 550 - 555
Journal Article
Fetal and Pediatric Pathology, ISSN 1551-3815, 03/2017, Volume 36, Issue 2, pp. 130 - 138
Mutations in KAT6B gene are responsible for Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS), with most mutations... 
KAT6B gene | de novo mutation | short stature | targeted next generation sequencing | MENTAL-RETARDATION | DISORDERS | OHDO SYNDROME | MECHANISMS | PATHOLOGY | HISTONE ACETYLTRANSFERASE KAT6B | DELINEATION | PEDIATRICS | QUERKOPF | Abnormalities, Multiple - pathology | Scrotum - abnormalities | Kidney - pathology | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Scrotum - pathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Joint Instability - diagnosis | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Exons - genetics | Mutation - genetics | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Codon, Nonsense - genetics | Urogenital Abnormalities - genetics
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2019, Volume 95, Issue 2, pp. 253 - 261
Journal Article
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, ISSN 1936-2625, 2019, Volume 12, Issue 2, pp. 431 - 431
MYST4 (also called MORF and KAT6B) is one of the histone acetyltransferases with transcriptional regulatory activity. It was found to be overexpressed in... 
MYST4 | CBP GENES | histone acetyltransferase | P300 | DNA-DAMAGE | ACUTE MYELOID-LEUKEMIA | PATHOLOGY | HISTONE ACETYLTRANSFERASE KAT6B | CELL-CYCLE PROGRESSION | IDENTIFICATION | BREAST-CANCER | tumor progression | DE-NOVO MUTATIONS | ONCOLOGY | GENE-EXPRESSION
Journal Article
Journal Article
Cancer Research, ISSN 0008-5472, 09/2015, Volume 75, Issue 18, pp. 3936 - 3944
Journal Article