HaploinsufficiencyHaploidyHeterozygotePhenotypeAbnormalities, MultipleMutationWilliams SyndromeChromosome DeletionAortic Stenosis, SupravalvularSyndromeGene DeletionIntellectual DisabilitySmith-Magenis SyndromeMice, KnockoutMice, Mutant StrainsHaplotypesGene DosagePedigreeCraniofacial AbnormalitiesMice, Inbred C57BLCodon, NonsenseEhlers-Danlos SyndromeFrameshift MutationHomeodomain ProteinsGenes, Neurofibromatosis 1FaciesHemizygoteMandibulofacial DysostosisAlagille SyndromeTranscription FactorsDiGeorge SyndromeGenes, DominantAcrocephalosyndactyliaChromosomes, Human, Pair 5AllelesLoss of HeterozygosityMicrocephalyDNA Mutational AnalysisMice, TransgenicChromosomes, Human, Pair 22Anemia, MacrocyticComparative Genomic HybridizationMonosomyDisease Models, AnimalAnemia, Diamond-BlackfanMutation, MissenseCleidocranial Dysplasia22q11 Deletion SyndromeTwist Transcription FactorNeurofibromin 1Limb Deformities, CongenitalPaired Box Transcription FactorsNervous System MalformationsChromosome BreakageBase SequencePAX9 Transcription FactorNeurofibromatosis 1Collagen Type VDNA-Binding ProteinsIn Situ Hybridization, FluorescenceWolf-Hirschhorn SyndromeT-Box Domain ProteinsCri-du-Chat SyndromeCodon, TerminatorChromosomes, Human, Pair 7Cranial SuturesSequence DeletionTurner SyndromeGene Expression Regulation, DevelopmentalMolecular Sequence DataCarney ComplexHand Deformities, CongenitalTelangiectasia, Hereditary HemorrhagicAnticipation, GeneticNail-Patella SyndromeGenotypeSkin AbnormalitiesCyclic AMP-Dependent Protein Kinase RIalpha SubunitPenetranceEye AbnormalitiesElastinNuclear ProteinsDyskeratosis CongenitaEye ProteinsNonsense Mediated mRNA DecayEmbryo, MammalianEmbryo LossSynostosisGigantismWaardenburg SyndromeMice, 129 StrainMusculoskeletal AbnormalitiesHomozygoteKeratoderma, PalmoplantarTranslocation, GeneticAgenesis of Corpus CallosumAniridiaSignal TransductionGene TargetingEpilepsies, Myoclonic