Li-Fraumeni SyndromeNeurofibromatosis 1Neoplastic Syndromes, HereditaryPeutz-Jeghers SyndromeNeurofibromin 1SyndromeGerm-Line MutationGenetic Predisposition to DiseaseRhabdoid TumorOptic Nerve GliomaNeurofibromatosis 2Bloom SyndromeColorectal Neoplasms, Hereditary NonpolyposisWerner SyndromeAdenomatous Polyposis ColiMutationPedigreeRecQ HelicasesNeoplasmsBardet-Biedl SyndromeDNA HelicasesMicrotubule ProteinsAbnormalities, MultipleKallmann SyndromeMandibulofacial DysostosisSmith-Lemli-Opitz SyndromeExodeoxyribonucleasesChediak-Higashi SyndromeMetabolic Syndrome XDown SyndromeDwarfismPhenotypeHomozygoteAdenosine TriphosphatasesChromosome MappingGroup II ChaperoninsWolfram SyndromeHermanski-Pudlak SyndromeMolecular Sequence DataDNA Mutational AnalysisHeterozygoteGenotypeNuclear ProteinsSjogren's SyndromeNephrotic SyndromeAllelesGenes, RecessiveBase SequenceConsanguinityProteinsGenetic LinkageGoiterFrameshift MutationMutation, MissenseTurner SyndromeExonsMyelodysplastic SyndromesAmino Acid SequenceMicrosatellite RepeatsDNA Topoisomerases, Type IDisease SusceptibilityRisk FactorsCushing SyndromeCarrier ProteinsDNA-Binding ProteinsCase-Control StudiesGenetic TestingAcute Coronary SyndromePolycystic Ovary SyndromeSequence DeletionPolymerase Chain ReactionPolymorphism, GeneticWilliams SyndromeLong QT SyndromeDNAPolymorphism, Single NucleotideHemolytic-Uremic SyndromeDiGeorge SyndromeRNA, MessengerHorner SyndromeRecombination, GeneticPrader-Willi SyndromeSequence Analysis, DNAGene FrequencyGuillain-Barre SyndromeMembrane ProteinsTranscription FactorsCompartment SyndromesTourette SyndromeBeckwith-Wiedemann SyndromeAntiphospholipid SyndromeHaplotypesFamily HealthCell LineGene Expression RegulationPorcine Reproductive and Respiratory SyndromeDNA, ComplementaryKlinefelter SyndromeRothmund-Thomson SyndromePromoter Regions, Genetic