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Molecular Syndromology, ISSN 1661-8769, 05/2019, Volume 10, Issue 3, pp. 130 - 138
KBG syndrome is an autosomal dominant disorder caused by pathogenic variants within ANKRD11 or deletions of 16q24.3 which include ANKRD11 . It is characterized... 
Original Article | 16q24.3 deletion | KBG syndrome | Joint stiffness | ANKRD11 | Macrodontia | COGNITIVE IMPAIRMENT | SHORT STATURE | IDENTIFICATION | ANKRD11 CAUSES | HAPLOINSUFFICIENCY | DELETION | 16Q24.3 | DELINEATION | GENES | GENETICS & HEREDITY | DUPLICATION
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2016, Volume 170, Issue 11, pp. 2847 - 2859
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 9, pp. 1176 - 1185
textabstractLoss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental,... 
16Q24.3 | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | COGNITIVE IMPAIRMENT | PATIENT | IDENTIFICATION | GENOME | DELETION | HAPLOINSUFFICIENCY | Abnormalities, Multiple - pathology | Tooth Abnormalities - diagnosis | Humans | Middle Aged | Autism Spectrum Disorder - complications | Child, Preschool | Intellectual Disability - complications | Male | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - pathology | Intellectual Disability - genetics | Exome | DNA Mutational Analysis | Tooth Abnormalities - complications | Gene Deletion | Facies | Adult | Female | Bone Diseases, Developmental - complications | Bone Diseases, Developmental - diagnosis | Child | Abnormalities, Multiple - genetics | Autism Spectrum Disorder - diagnosis | Autism Spectrum Disorder - genetics | Gene Expression | Tooth Abnormalities - genetics | Intellectual Disability - pathology | Repressor Proteins - genetics | Genotype | Autism Spectrum Disorder - pathology | Phenotype | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Chromosomes, Human, Pair 16 | Tooth Abnormalities - pathology | Phenotypes | Hyperactivity | Teeth | Genomes | Neurodevelopmental disorders | Patients | Hip | Hearing loss | Autism | Genotype & phenotype | Hearing | Nose | Phenotyping | Incisors | Genetics | Children | Mutation
Journal Article
Molecular Syndromology, ISSN 1661-8769, 06/2013, Volume 4, Issue 5, pp. 246 - 249
Microdeletions in 16q24.3 are associated with intellectual disability and a specific phenotype, e.g. short stature and a prominent forehead. The 16q24.3... 
Short Report | 16q24.3 microdeletion | KBG syndrome | Molecular karyotyping | ANKRD11 gene | Silver-Russell syndrome
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2013, Volume 21, Issue 2, pp. 173 - 181
Clinically significant cardiovascular malformations (CVMs) occur in 5-8 per 1000 live births. Recurrent copy number variations (CNVs) are among the known... 
cardiovascular malformations (CVMs) | protein-interaction network | Rare copy number variations | 16q24.3 microdeletion | extracardiac anomalies (ECAs) | GENOTYPE-PHENOTYPE CORRELATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | DEVELOPMENTAL DELAY | IDENTIFICATION | DIAPHRAGMATIC-HERNIA | ARRAY-CGH | DISEASE | GENETICS & HEREDITY | KBG SYNDROME | rare copy number variations | CONGENITAL HEART-DEFECTS | COMPARATIVE GENOMIC HYBRIDIZATION | CHROMOSOMAL-ABNORMALITIES | Sequence Deletion | Cardiovascular Diseases - physiopathology | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Aneuploidy | Male | DNA Copy Number Variations - genetics | Cardiovascular Diseases - genetics | Chromosomes, Human, Pair 22 - genetics | Eye Abnormalities | Protein Interaction Maps - genetics | Female | Polymorphism, Single Nucleotide | Chromosome Disorders - physiopathology | Chromosome Disorders - genetics | Chromosomes, Human, Pair 16 - genetics | Cohort Studies | Heart | Pediatrics | Congenital diseases | Ca2 /calmodulin-dependent phosphodiesterase | Copy number | Genes | Cognitive ability | Births | Genomes | Defects | Medicine | Studies | Nutrition research | Databases | Hospitals | Genetics | Mutation | Children | Cardiology | Deoxyribonucleic acid--DNA | Ca super(2+)/calmodulin-dependent phosphodiesterase | DNA | genomics | copy number
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 06/2003, Volume 12, Issue 11, pp. 1329 - 1336
Journal Article
GENOMICS, ISSN 0888-7543, 05/1998, Volume 50, Issue 1, pp. 1 - 8
A breast cancer tumor suppressor gene has been localized to chromosome 16q24.3 by loss of heterozygosity (LOH) studies of breast tumor DNA, To identify... 
16Q24.3 | GENE | CLONING | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GROWTH | GENETICS & HEREDITY | PISSLRE | 16Q | CARCINOMA IN-SITU | DELETION
Journal Article