Article

Identity-by-descent refines mapping of candidate regions for preaxial polydactyly in a large Chinese pedigree

2017-05-22

Abstract excerpt

Preaxial polydactyly (PPD) is congenital hand malformation characterized by the duplication of digit. Herein, we scan the genome-wide SNPs for a large Chinese family with PPD-II/III. We employ the refined IBD algorithm to identify the identity-by-decent (IBD) segments and compare the frequency among the patients and normal relatives. A total of 72 markers of 0.01 percentile of the permutation are identified as the...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ec3928ac-11b2-5834-bd94-965eec07db5c
DOI: 10.1101/139428

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identity-by-descent refines mapping of candidate regions for preaxial polydactyly in a large Chinese pedigreeDOI 10.1101/139428Read

Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree.Semantic proximity Read

Genetic overview of postaxial polydactyly: Updated classificationSemantic proximity Read

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.Semantic proximity Read

Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.Semantic proximity Read

Prenatal diagnosis identifies compound heterozygous variants in PKDCC that causes Rhizomelic Limb Shortening with Dysmorphic Features in a Chinese fetusSemantic proximity Read

Genetic Analysis of Preaxial Polydactyly: Identification of Novel Mutations and the Role of ZRS Duplications in a Chinese Cohort of 102 casesSemantic proximity Read

Whole Exome Sequencing Aids The Diagnosis of Fetal Skeletal DysplasiaSemantic proximity Read

An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.Semantic proximity Read

Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.Semantic proximity Read

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.Semantic proximity Read

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.Semantic proximity Read

Nonframeshifting indel variations in polyalanine repeat of HOXD13 gene underlies hereditary limb malformation for two Chinese families.Semantic proximity Read