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Bone, ISSN 8756-3282, 06/2019, Volume 123, pp. 18 - 22
We report the case of a young woman who presented at age 10 years with height on the tenth centile, brachydactyly type E and mild developmental delay.... 
KBG syndrome | Brachydactyly type E | Skeletal disorder | ANKRD11 gene | ANKRD11 | ENDOCRINOLOGY & METABOLISM | Epigenetic inheritance | Medical colleges | Medical research | Anopheles | Genomics | Medicine, Experimental | Research institutes | Nucleotide sequencing | Chromosomes | DNA sequencing
Journal Article
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
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2016, Volume 170, Issue 11, pp. 2835 - 2846
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 06/2018, Volume 176, Issue 6, pp. 1281 - 1282
KBG syndrome is a rare autosomal dominant disorder caused by constitutive haploinsufficiency of the ankyrin repeat domain-containing protein 11 (ANKRD11) being... 
16q24 | KBG syndrome | 3 microdeletion | ANKRD11 | GENETICS & HEREDITY | cancer predisposition | tumor suppressor gene
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 12/2017, Volume 12, Issue 1, pp. 183 - 7
Clinical Description: KBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as triangular face,... 
Short stature | KBG syndrome | Review | ANKRD11 | Macrodontia | MEDICINE, RESEARCH & EXPERIMENTAL | MUTATION | GENETICS & HEREDITY | PHENOTYPE | IDENTIFICATION | DELETION | Family | Epidemiology | Seizures (Medicine)
Journal Article
Molecular BioSystems, ISSN 1742-206X, 6/2016, Volume 12, Issue 7, pp. 2135 - 2141
Distinguishing driver pathways has been extensively studied because they are critical for understanding the development and molecular mechanisms of cancers.... 
SIGNALING PATHWAYS | COMBINATIONS | MUTUAL EXCLUSIVITY | ANKRD11 | BIOCHEMISTRY & MOLECULAR BIOLOGY | KINASE | PATTERNS | GRB2 | GATA3 | IDENTIFICATION | SOMATIC MUTATIONS
Journal Article
BMC MEDICAL GENETICS, ISSN 1471-2350, 01/2019, Volume 20
BackgroundKBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings,... 
DELINEATION | KBG syndrome | FEBRILE SEIZURES PLUS | Whole exome sequencing | GENETICS & HEREDITY | Generalized epilepsy with febrile seizures (GEFS plus ) | SCN9A gene | GENERALIZED EPILEPSY | CHILDHOOD | ANKRD11 gene
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2017, Volume 173, Issue 7, pp. 1866 - 1877
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have been described with the expansion... 
macrodonti | KBG syndrome | ANRKD11 | intellectual disability | ANKRD11 | GENETICS & HEREDITY | MUTATIONS | Hernia | Calcification (ectopic) | Genotype & phenotype | Basal ganglia | Transcription | Viscera | Cryptorchidism | Palate | Mutation | Heart diseases | Osteopenia | Ganglia
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 03/2018, Volume 111, pp. 138 - 152
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2018, Volume 176, Issue 9, pp. 1991 - 1995
KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11 , one of... 
KBG syndrome | language delay | ANKRD11 | brachydactyly | prominent and elongated coccyx | growth retardation | facial dysmorphism | GENETICS & HEREDITY | DIAGNOSTIC-CRITERIA | Vertebrae | Phenotypes | Exons | Cognitive ability | Calcaneus | Skin | Ankyrin | Mutation | Cofactors | MASP-1 protein
Journal Article
Molecular Cytogenetics, ISSN 1755-8166, 03/2015, Volume 8, Issue 1, p. 20
Background: KBG syndrome, a rare autosomal disorder characterised by distinctive craniofacial and skeletal features and developmental delay, is caused by... 
Genotype-phenotype correlations | Low-level mosaicism | ANKRD11 intragenic duplication | KBG syndrome | MICRODELETION | DELINEATION | GENE | GENETICS & HEREDITY | MUTATIONS | DELETION | Cytogenetics | Codon | Gene mutations | Comparative analysis
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2019, Volume 95, Issue 2, pp. 231 - 240
Journal Article