ProgeriaWerner SyndromeAging, PrematureLamin Type ASyndromeGenes, RecessiveCockayne SyndromeSkin AbnormalitiesConsanguinityFarnesyltranstransferaseLipodystrophyPedigreeAbnormalities, MultipleMutationProtein PrecursorsLipoid Proteinosis of Urbach and WietheHomozygoteRecQ HelicasesPhenotypeMutation, MissenseDNA Mutational AnalysisAlstrom SyndromeCodon, NonsenseHypotrichosisMicrocephalyPapillon-Lefevre DiseaseOsteochondrodysplasiasIntellectual DisabilityRothmund-Thomson SyndromeHeterozygotePolycystic Kidney, Autosomal RecessiveBardet-Biedl SyndromeGenetic Linkage1-Acylglycerol-3-Phosphate O-AcyltransferaseChromosome MappingRare DiseasesTrichothiodystrophy SyndromesPorphyria, ErythropoieticLod ScoreHypopigmentationMetabolism, Inborn ErrorsFaciesEhlers-Danlos SyndromeReceptor, Melanocortin, Type 2Keratoderma, PalmoplantarExonsMolecular Sequence DataAfibrinogenemiaEllis-Van Creveld SyndromeCystinosisBloom SyndromeCraniofacial AbnormalitiesChediak-Higashi SyndromeHyperoxaluria, PrimaryFrameshift MutationImmunologic Deficiency SyndromesAcrodermatitisHaplotypesFibroblastsFanconi AnemiaBase SequenceFamily HealthRNA Splice SitesGenotypeRetinitis PigmentosaChromosomes, Human, Pair 1AllelesFatal OutcomeLipid Metabolism, Inborn ErrorsInfant, NewbornDown SyndromeCell AgingMetabolic Syndrome XAmino Acid SequenceDNA RepairGalactosyltransferasesMicrosatellite RepeatsXeroderma PigmentosumExodeoxyribonucleasesAdrenal InsufficiencyFaceLongevityGenetic MarkersIchthyosisAtaxia TelangiectasiaPoint MutationSitosterolsSiblingsMetalloendopeptidasesDNA HelicasesAgingTurkeyNephrotic SyndromeSequence Analysis, DNAMembrane ProteinsSequence DeletionEndonucleasesIchthyosiform Erythroderma, CongenitalPolymerase Chain ReactionGenes, Dominant