Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly
Abdullah, Bharadwaj T, Javed S, Khan H, Acharya A, Ji W, Umm-e-Kalsoom, Ali H, Schrauwen I, Ahmad W, Lakhani S, Leal S. Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly. Genes 2025, 16: 1118. PMID: 41010063, PMCID: PMC12469399, DOI: 10.3390/genes16091118.Peer-Reviewed Original ResearchConceptsGenetic spectrumVariant c.Autosomal recessive modePolymorphic microsatellite markersConsanguineous Pakistani familyIn-frame deletion variantPostaxial polydactyly type ANonsense variant c.Recessive mode of inheritanceMissense variant c.Autosomal recessive mode of inheritanceMicrosatellite markersMode of inheritancePostaxial polydactylyPakistani familyExome sequencingNonsense variantDeletion variantsSanger sequencingDeletion c.MissensePapBVariantsSequenceExtra digits
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