Mechanisms for the Generation of Two Quadruplications Associated with Split‐Hand Malformation
Gu S, Posey JE, Yuan B, Carvalho CM, Luk HM, Erikson K, Lo IF, Leung GK, Pickering CR, Chung BH, Lupski JR. Mechanisms for the Generation of Two Quadruplications Associated with Split‐Hand Malformation. Human Mutation 2015, 37: 160-164. PMID: 26549411, PMCID: PMC4718869, DOI: 10.1002/humu.22929.Peer-Reviewed Original ResearchMeSH Keywords14-3-3 ProteinsAdultAgedAlu ElementsBase SequenceBasic Helix-Loop-Helix Transcription FactorsChromosome DuplicationChromosomes, Human, Pair 17DNA Copy Number VariationsFemaleGenetic LociGenome, HumanHand Deformities, CongenitalHumansInfantMaleMolecular Sequence DataPedigreeSequence AlignmentSequence Analysis, DNA