Genes, RecessiveConsanguinityPedigreeMutationHomozygotePhenotypePolycystic Kidney, Autosomal RecessiveGenetic LinkageChromosome MappingGenes, DominantDNA Mutational AnalysisSyndromeHeterozygoteAllelesRetinitis PigmentosaMutation, MissenseLod ScoreMolecular Sequence DataGenes, LethalIchthyosisAbnormalities, MultipleGenotypeCrosses, GeneticCodon, NonsenseBase SequenceMicrocephalyEpidermolysis Bullosa DystrophicaHaplotypesExonsDeafnessHypotrichosisFrameshift MutationGenetic MarkersAmino Acid SequenceIntellectual DisabilityHeterozygote DetectionGenetic HeterogeneityIchthyosiform Erythroderma, CongenitalExomeFounder EffectFamily HealthPakistanGenetic Predisposition to DiseaseGenetic Complementation TestHearing Loss, SensorineuralX ChromosomeMicrosatellite RepeatsOsteochondrodysplasiasCerebellar AtaxiaIchthyosis, LamellarPoint MutationModels, GeneticDwarfismGenetic Diseases, InbornCollagen Type VIIChromosomes, Human, Pair 2Muscular DystrophiesGenetic TestingGene FrequencyPolymorphism, Single NucleotideBone Diseases, DevelopmentalEpidermolysis BullosaPolymorphism, Single-Stranded ConformationalPolymorphism, GeneticEye Diseases, HereditaryInheritance PatternsOsteopetrosisMetabolism, Inborn ErrorsSequence Analysis, DNAMice, Mutant StrainsArabsEye ProteinsSuppression, GeneticChromosomes, Human, Pair 1Myotonia CongenitaPolymerase Chain ReactionAge of OnsetCharcot-Marie-Tooth DiseaseSequence DeletionHearing LossEctodermal DysplasiaFriedreich AtaxiaMembrane ProteinsElectroretinographyDysostosesEthyl MethanesulfonateInfant, NewbornChromosome DisordersNails, MalformedFamilyRetinal DegenerationPigmentationAlbinism, OculocutaneousJewsMicrophthalmosArthrogryposisSyndactylyCutis LaxaEthylnitrosoureaKidney Diseases, Cystic