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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
Genetics in Medicine, ISSN 1098-3600, 07/2018, Volume 20, Issue 7, pp. 745 - 753
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 282 - 289
Journal Article
Human Mutation, ISSN 1059-7794, 11/2012, Volume 33, Issue 11, pp. 1520 - 1525
Genitopatellar syndrome (GPS) and Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct... 
MYST4 | database | genitopatellar syndrome | KAT6B | Ohdo syndrome | Database | Genitopatellar syndrome | BLEPHAROPHIMOSIS | PROTEIN | MENTAL-RETARDATION | ANOMALIES | PHENOTYPE | ACUTE MYELOID-LEUKEMIA | HISTONE ACETYLTRANSFERASE | MORF | GENETICS & HEREDITY | OHDO-SYNDROME | QUERKOPF | Abnormalities, Multiple - pathology | Sequence Deletion | Scrotum - abnormalities | Kidney - pathology | Blepharoptosis - genetics | Histone Acetyltransferases - chemistry | Blepharophimosis - enzymology | Humans | Kidney - enzymology | Psychomotor Disorders - enzymology | Urogenital Abnormalities - enzymology | Histone Acetyltransferases - genetics | Molecular Sequence Data | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Base Sequence | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Patella - abnormalities | Intellectual Disability - enzymology | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Patella - enzymology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Scrotum - enzymology | Genetic Association Studies | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Haploinsufficiency | Patella - pathology | DNA - genetics | Urogenital Abnormalities - pathology | Kidney - abnormalities | Craniofacial Abnormalities - enzymology | Abnormalities, Multiple - enzymology | Mutation | Blepharoptosis - pathology | Databases, Nucleic Acid | Urogenital Abnormalities - genetics | Histones | Medical colleges | Congenital heart disease | Genetic disorders | Kidney diseases | Genes | Ohdo Syndrome | mutation database
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2017, Volume 91, Issue 2, pp. 339 - 343
Say–Barber–Biesecker–Young–Simpson syndrome ( SBBYSS ) and genitopatellar syndrome ( GTPTS ) are clinically similar disorders with some overlapping features.... 
Say–Barber–Biesecker–Young–Simpson syndrome, SBBYSS | KAT6B | lysine acetyltransferase 6B | genitopatellar syndrome | KAT6B spectrum disorders | GTPTS | KAT6B‐related disorders | KAT6B-related disorders | BLEPHAROPHIMOSIS | HISTONE ACETYLTRANSFERASE | FEATURES | RETARDATION | Say-Barber-Biesecker-Young-Simpson syndrome, SBBYSS | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | Abnormalities, Multiple - pathology | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | 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 | Female | Scrotum - pathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Joint Instability - diagnosis | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | 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 | Mutation | Urogenital Abnormalities - genetics | Genetic disorders | Multiprocessing | Lysine | Genetic aspects | Nucleotide sequencing | DNA sequencing | Genotype & phenotype
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 27 - 43
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2014, Volume 94, Issue 2, pp. 288 - 294
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 455 - 459
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 553 - 561
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 12/2018, Volume 65, Issue 12, pp. e27373 - n/a
Journal Article
PLoS genetics, ISSN 1553-7390, 12/2018, Volume 14, Issue 12, p. e1007850
Domestic dog breeds exhibit remarkable morphological variations that result from centuries of artificial selection and breeding. Identifying the genetic... 
PROTEIN | SIGNALING PATHWAY | CRANIAL BASE | PHOSPHORYLATION | WNT5A | GENES | SEQUENCE | DISEASE | GENETICS & HEREDITY | AUTOSOMAL-DOMINANT | HOMOLOG | Limb Deformities, Congenital - genetics | Dog Diseases - metabolism | Frameshift Mutation | Species Specificity | Humans | Dishevelled Proteins - metabolism | Male | Craniofacial Abnormalities - veterinary | Genetic Variation | Dwarfism - metabolism | Dogs - classification | Female | Urogenital Abnormalities - metabolism | Dishevelled Proteins - genetics | Dogs - genetics | Craniofacial Abnormalities - metabolism | Organosilicon Compounds | Craniofacial Abnormalities - genetics | Amino Acid Sequence | Tail - anatomy & histology | Genome-Wide Association Study | Limb Deformities, Congenital - metabolism | Dog Diseases - genetics | Urogenital Abnormalities - veterinary | Dogs - anatomy & histology | Sequence Homology, Amino Acid | Dwarfism - genetics | Animals | Dwarfism - veterinary | Wnt Signaling Pathway - genetics | Limb Deformities, Congenital - veterinary | Urogenital Abnormalities - genetics | Usage | Research | Nucleotide sequencing | Genetic variation | DNA sequencing | Visualization | Veterinary colleges | Phosphorylation | Wnt protein | Disease | Congenital defects | Frameshift mutation | Vertebra | Genomes | Biology | Veterinary medicine | Tails | Morphogenesis | Population | Bioinformatics | Supervision | Dishevelled protein | Phenotypes | Vertebrae | Thorax | Gene expression | Gene frequency | Morphology | Dogs | Mutation
Journal Article