2025
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
2024
A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly
Khan M, Abdullah, Khan H, Zaman A, Ahmed S, Iqbal P, Bilal M, Ullah K, Hasni M, Ullah I, Mis E, Lakhani S, Ahmad W. A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly. Molecular Syndromology 2024, 15: 443-449. PMID: 40657133, PMCID: PMC12246549, DOI: 10.1159/000539279.Peer-Reviewed Original ResearchHomozygous missense variantWhole-exome sequencingHereditary limb malformationsSonic hedgehog pathwayAutosomal recessive mannerSequence variantsMissense variantsProtein foldingIsolated postaxial polydactylyExome sequencingSegregation analysisNovel variantsConsanguineous familySanger sequencingSMO genesExtra digitsHomology modelingCellular differentiationHedgehog pathwayRecessive mannerEmbryonic cellsPostaxial polydactylySequencePreaxial polydactylyVariants
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