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Polydactyly: phenotypes, genetics and classification.

Polydactyly: phenotypes, genetics and classification.

http://www.wikidata.org/entity/Q38135913

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Generating anatomical variation through mutations in networks - implications for evolution Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects.Descriptive epidemiology of hereditary musculoskeletal and limb defects in the isolated population of Chitral, North-West Pakistan Advances in the molecular genetics of non-syndromic polydactyly.Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree.The two domain hypothesis of limb prepattern and its relevance to congenital limb anomalies.Prenatal exposure to environmental factors and congenital limb defects.GLI3-related polydactyly: a review.A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.Preaxial polydactyly of the foot.Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.From the Cover: Teratogenic Effects of in Utero Exposure to Di-(2-Ethylhexyl)-Phthalate (DEHP) in B6:129S4 Mice.Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis.Clinical Genetics of Polydactyly: An Updated Review

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Polydactyly: phenotypes, genetics and classification.

http://www.wikidata.org/entity/Q38135913

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Polydactyly: phenotypes, genetics and classification.

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Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb

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

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

Congenital anomalies: a 25-year overview.

Syndactyly: phenotypes, genetics and current classification

Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly.

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Synpolydactyly: clinical and molecular advances.

The developing limb and the control of the number of digits.

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10.1111/CGE.12276

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