Werner SyndromeRecQ HelicasesExodeoxyribonucleasesGenes, RecessiveSyndromePedigreeDNA HelicasesConsanguinityGenes, DominantMutationBloom SyndromeDNA Mutational AnalysisPhenotypeHomozygoteAbnormalities, MultiplePolycystic Kidney, Autosomal DominantMutation, MissenseGenetic LinkageMolecular Sequence DataExonucleasesLod ScoreRothmund-Thomson SyndromeAging, Premature4-Nitroquinoline-1-oxideChromosome MappingHeterozygoteBase SequenceAlbinism, OculocutaneousRetinitis PigmentosaDNAProgeriaExonsHaplotypesCystinosisHermanski-Pudlak SyndromeFrameshift MutationCodon, NonsenseGenetic HeterogeneityMicrocephalyAdenosine TriphosphatasesLipoid Proteinosis of Urbach and WietheOsteochondrodysplasiasDNA DamageAmino Acid SequenceIntellectual DisabilityHeterozygote DetectionDwarfismBardet-Biedl SyndromeFibroblastsHearing Loss, SensorineuralTelomereAllelesGenotypeGenetic MarkersPolycystic Kidney, Autosomal RecessiveFamily HealthFounder EffectNails, MalformedGenetic TestingMetabolism, Inborn ErrorsPolymorphism, Single-Stranded ConformationalDNA ReplicationDNA RepairHypotrichosisChromosomes, Human, Pair 8Papillon-Lefevre DiseaseDNA-Binding ProteinsAmino Acid Metabolism, Inborn ErrorsPoint MutationMicrosatellite RepeatsSurvival of Motor Neuron 1 ProteinChromosomes, Human, Pair 1Cell LineHeLa CellsUsher SyndromesChromosomes, Human, Pair 2Muscular Atrophy, SpinalProtein Structure, TertiaryPolymerase Chain ReactionFanconi AnemiaChromosome DisordersAtaxia TelangiectasiaChediak-Higashi SyndromeInfant, NewbornFaciesReplication Protein ATelomeric Repeat Binding Protein 2AfibrinogenemiaDeafnessHepatolenticular DegenerationGenetic Diseases, InbornUrea Cycle Disorders, InbornProtein BindingCraniofacial AbnormalitiesMembrane ProteinsIchthyosis, LamellarMuscular DystrophiesEllis-Van Creveld SyndromeAge of OnsetSpinal Muscular Atrophies of Childhood