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American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2019, Volume 179, Issue 1, pp. 113 - 117
Kabuki syndrome (KS) is an extremely rare genetic disorder, mainly caused by germline mutations at specific epigenetic modifier genes, including KMT2D. Because... 
KMT2D | Kabuki syndrome | Burkitt lymphoma | pediatric | MAKE-UP SYNDROME | MLL2 | GENETIC LANDSCAPE | KDM6A MUTATIONS | CANCER | GENOME | CHILDREN | GENETICS & HEREDITY | EARS | Congenital defects | Genetic analysis | Peripheral blood | Tumor suppressor genes | Lymphomas | Mutation | Myc protein | Deoxyribonucleic acid--DNA | Cancer | Tumors | Burkitt's lymphoma
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 2912 - 2922
The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a... 
KMT2D gene | Kabuki syndrome | KDM6A gene | congenital heart defect | HORMONE DEFICIENCY | MENTAL-RETARDATION | NIIKAWA-KUROKI-SYNDROME | TURNERS-SYNDROME | SYNDROME GENES KMT2D | MAKE-UP-SYNDROME | PHENOTYPIC SPECTRUM | CARDIOVASCULAR MALFORMATIONS | GENETICS & HEREDITY | MUTATIONS | ADAMS-OLIVER-SYNDROME | Aortic Valve Stenosis - genetics | Vestibular Diseases - complications | Aortic Valve - abnormalities | Face - abnormalities | Humans | Male | Heart Septal Defects, Ventricular - physiopathology | Heart Septal Defects, Atrial - physiopathology | Histone Demethylases - genetics | Aortic Coarctation - physiopathology | Heart Defects, Congenital - genetics | Aortic Coarctation - complications | Female | Heart Septal Defects, Atrial - genetics | Vestibular Diseases - physiopathology | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Heart Valve Diseases - physiopathology | Hematologic Diseases - complications | Heart Septal Defects, Ventricular - genetics | Aortic Valve Stenosis - physiopathology | Aortic Valve - physiopathology | DNA-Binding Proteins - genetics | Abnormalities, Multiple - physiopathology | Face - physiopathology | Aortic Valve Stenosis - complications | Heart Defects, Congenital - complications | Hematologic Diseases - physiopathology | Heart Valve Diseases - genetics | Hematologic Diseases - genetics | Aortic Coarctation - genetics | Heart Defects, Congenital - physiopathology | Vestibular Diseases - genetics | Heart | Congenital heart disease | Genetic disorders | Coronary heart disease | Echocardiography | Congenital defects | Aortic arch | Aorta | Ventricle | Health risk assessment | Aortic valve | Defects
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2781 - 2786
DCPS gene encodes for a protein involved in gene expression regulation through promoting cap degradation during mRNA decapping processes. Mutations altering... 
11q24.2 | genomic microarray | DCPS | CMA | Al‐Raqad syndrome | Al-Raqad syndrome | INTELLECTUAL DISABILITY | GENETICS & HEREDITY | DECAPPING ENZYME DCPS | Skin | Missense mutation | Mutation | Growth rate | Gene expression
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2017, Volume 173, Issue 9, pp. 2353 - 2358
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2017, Volume 173, Issue 7, pp. 1943 - 1946
Pallister–Killian syndrome (PKS‐#OMIM601803) is a multisystem developmental disorder typically due to the presence of an aneuploidy cell line, consisting of a... 
12p isochromosome | skin dyschromia | hypopigmentation | Pallister–Killian | 12p13.3 | Pallister-Killian | MARKER | GENETICS & HEREDITY | GIRL | Urine | Epilepsy | Tetrasomy | Aneuploidy | Pigmentation | Genetic screening | Skin spot | Hernia | Lymphocytes | Fibroblasts | Mosaicism | Chromosome 12 | Supernumerary | Saliva
Journal Article
Journal Article