HaploinsufficiencyHaploidyHeterozygotePhenotypeMutationAbnormalities, MultipleWilliams SyndromeSyndromeGene DeletionChromosome DeletionAortic Stenosis, SupravalvularIntellectual DisabilitySmith-Magenis SyndromeMice, KnockoutMice, Inbred C57BLMice, Mutant StrainsHaplotypesGene DosagePedigreeCraniofacial AbnormalitiesCodon, NonsenseFrameshift MutationHomeodomain ProteinsEhlers-Danlos SyndromeTranscription FactorsAllelesGenes, Neurofibromatosis 1HemizygoteGenes, DominantMandibulofacial DysostosisFaciesAlagille SyndromeDisease Models, AnimalMice, TransgenicDiGeorge SyndromeAcrocephalosyndactyliaChromosomes, Human, Pair 5DNA Mutational AnalysisMolecular Sequence DataLoss of HeterozygosityBase SequenceMicrocephalyChromosomes, Human, Pair 22Anemia, MacrocyticComparative Genomic HybridizationMutation, MissenseMonosomyAnemia, Diamond-BlackfanDNA-Binding ProteinsGenotypeCleidocranial DysplasiaNeurofibromin 1Limb Deformities, Congenital22q11 Deletion SyndromeTwist Transcription FactorPaired Box Transcription FactorsChromosome BreakageGene Expression Regulation, DevelopmentalIn Situ Hybridization, FluorescenceNervous System MalformationsNeurofibromatosis 1PAX9 Transcription FactorSequence DeletionSignal TransductionCodon, TerminatorCollagen Type VCranial SuturesChromosomes, Human, Pair 7T-Box Domain ProteinsRNA, MessengerWolf-Hirschhorn SyndromeCri-du-Chat SyndromeNuclear ProteinsTurner SyndromePenetranceCarney ComplexHand Deformities, CongenitalTelangiectasia, Hereditary HemorrhagicEmbryo, MammalianElastinAnticipation, GeneticNail-Patella SyndromeEye ProteinsSkin AbnormalitiesEye AbnormalitiesHomozygoteCyclic AMP-Dependent Protein Kinase RIalpha SubunitDyskeratosis CongenitaEmbryo LossNonsense Mediated mRNA DecayMice, 129 StrainGigantismReverse Transcriptase Polymerase Chain ReactionSynostosisCells, CulturedTranslocation, GeneticGenetic Predisposition to DiseaseWaardenburg SyndromeGene TargetingChromosome Mapping