Genes, RecessiveGenes, DominantPedigreeConsanguinityMutationHomozygotePhenotypeGenetic LinkageChromosome MappingMolecular Sequence DataDNA Mutational AnalysisAllelesHeterozygotePolycystic Kidney, Autosomal RecessiveSyndromeMutation, MissenseRetinitis PigmentosaLod ScoreBase SequenceGenotypeGenes, LethalCrosses, GeneticAbnormalities, MultipleHaplotypesExonsCodon, NonsenseGenetic MarkersIchthyosisFrameshift MutationDeafnessGenetic HeterogeneityHypotrichosisPoint MutationMicrocephalyEpidermolysis Bullosa DystrophicaGenetic Predisposition to DiseaseFamily HealthSequence Analysis, DNAMicrosatellite RepeatsModels, GeneticCerebellar AtaxiaPolymerase Chain ReactionHearing Loss, SensorineuralExomeChromosomes, Human, Pair 2Genetic Complementation TestHeterozygote DetectionIntellectual DisabilityFounder EffectX ChromosomeGenetic TestingAmino Acid SequenceGenetic Diseases, InbornOsteochondrodysplasiasEye ProteinsPolymorphism, GeneticPolymorphism, Single NucleotideSequence DeletionGene FrequencyPolymorphism, Single-Stranded ConformationalSuppression, GeneticAge of OnsetMembrane ProteinsCell LineIchthyosiform Erythroderma, CongenitalMuscular DystrophiesDNA PrimersPakistanInheritance PatternsDwarfismCharcot-Marie-Tooth DiseasePenetranceBone Diseases, DevelopmentalEye Diseases, HereditaryCollagen Type VIIElectroretinographyPolycystic Kidney DiseasesMice, Mutant StrainsChromosomes, Human, Pair 1Amino Acid SubstitutionIchthyosis, LamellarEctodermal DysplasiaChromosome DisordersMyotonia CongenitaCataractRNA, MessengerNails, MalformedTransfectionDNA-Binding ProteinsDNARetinal DegenerationSyndactylyEpidermolysis BullosaMutagenesisPigmentationSpastic Paraplegia, HereditaryFamilyOsteopetrosisFoot Deformities, CongenitalSignal Transduction