A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes

Biochemistry, Genetics and Molecular Biology

• Cell Proliferation 100%
• Pedigree 100%
• Exome Sequencing 100%
• Body Height 100%
• Prenatal Growth 100%
• Proliferating Cell Nuclear Antigen 100%
• Multiplex Ligation-Dependent Probe Amplification 100%
• Antigen Binding 100%
• Methylation 50%
• Genetics 50%
• Genetic Divergence 50%
• Adrenocorticotropic Hormone 50%
• Single-Nucleotide Polymorphism 50%
• Gene Linkage 50%
• Cyclin-Dependent Kinase 50%
• Dysplasia 50%
• Chromosome 50%
• Genetic Linkage Analysis 50%
• Adrenal Function 50%
• Beckwith-Wiedemann Syndrome 50%
• Testis Size 50%
• Genomics 50%
• Dideoxynucleotide Sequencing 50%
• Inheritance 50%

Keyphrases

• Diabetes 100%
• Short Stature 100%
• Selective Intrauterine Growth Restriction (sIUGR) 100%
• Adulthood-onset 100%
• CDKN1C 100%
• Emerging Adulthood 100%
• Novel Variant 100%
• Cell Proliferation 28%
• Pedigree 28%
• Whole Exome Sequencing 28%
• Proliferating Cell nuclear Antigen 28%
• Multiplex Ligation-dependent Probe Amplification 28%
• IMAGe Syndrome 28%
• Adrenal Gland 14%
• Sequence Analysis 14%
• Genetic Variants 14%
• Genomic DNA (gDNA) 14%
• Adrenal Insufficiency 14%
• Adrenal Function 14%
• Copy number Variation 14%
• Antigen-binding Site 14%
• Cyclin-dependent Kinase Inhibitor 2A (CDKN2A) 14%
• Genetic Basis 14%
• Linkage Analysis 14%
• Clinical Assessment 14%
• DNA Samples 14%
• Inheritance Pattern 14%
• Reconstitution 14%
• Sanger Sequencing 14%
• Growth Disorders 14%
• Negative Regulator 14%
• Testicular Volume 14%
• Pre-diabetes (pre-DM) 14%
• Imprinting Center 14%
• Antigen Binding 14%
• SNP Array 14%
• Genetic Linkage Analysis 14%
• Gland Size 14%
• Chromosome 11p15 14%
• Monogenic Diabetes 14%
• Methylation Defects 14%
• Genome-wide Single nucleotide Polymorphisms 14%
• Testis Volume 14%
• Beckwith-Wiedemann Syndrome 14%
• Metaphyseal Dysplasia 14%
• Familial Disorders 14%
• Centre Region 14%
• Six Generation 14%

Medicine and Dentistry

• Diabetes 100%
• Short Stature 100%
• Intrauterine Growth Retardation 100%
• Pedigree 40%
• Cell Proliferation 40%
• Proliferating Cell Nuclear Antigen 40%
• Antigen Binding 40%
• Exome Sequencing 40%
• Multiplex Ligation Dependent Probe Amplification 40%
• Testes 20%
• Dysplasia 20%
• Adrenal Gland 20%
• Corticotropin 20%
• Adrenal Function 20%
• Adrenal Insufficiency 20%
• Single Nucleotide Polymorphism 20%
• Genetic Variability 20%
• Gene Linkage 20%
• Genetic Linkage 20%
• Linkage Analysis 20%
• Clinical Assessment 20%
• Sanger Sequencing 20%
• Genomic DNA 20%
• Growth Disorder 20%
• Methylation 20%
• Familial Disease 20%
• Beckwith Wiedemann Syndrome 20%
• Cyclin Dependent Kinase Inhibitor 20%
• Chromosome 20%
• Genetics 20%
• Inheritance 20%