Polydactyly, postaxial, type B.
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DOI: 10.1002/bdr2.1184
Abstract: BACKGROUND Postaxial polydactyly, type B is the most common type of polydactyly. The vestigial sixth finger is attached by a narrow neurovascular pedicle to the lateral aspect of the hand or foot at the level… read more here.
Keywords: polydactyly postaxial; postaxial polydactyly; type polydactyly; polydactyly type ... See more keywords
Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly
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DOI: 10.1002/dvdy.89
Abstract: Polydactyly is a phenotypically and genetically highly heterogeneous limb malformation with preaxial, postaxial, and central subtypes. The aim of this study was to identify genetically pathogenic factor in a Chinese nonsyndromic polydactyly family. read more here.
Keywords: exome sequencing; family; nonsyndromic polydactyly; sequencing reveals ... See more keywords
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
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DOI: 10.1002/humu.23924
Abstract: Polydactyly is one of the most frequent inherited defects of the limbs characterized by supernumerary digits and high‐genetic heterogeneity. Among the many genes involved, either in isolated or syndromic forms, eight have been implicated in… read more here.
Keywords: phenotype; novel iqce; postaxial polydactyly; variations confirm ... See more keywords
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice
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DOI: 10.1002/jbmr.3594
Abstract: Polydactyly is a common congenital anomaly of the hand and foot. Postaxial polydactyly (PAP) is characterized by one or more posterior or postaxial digits. In a Pakistani family with autosomal recessive nonsyndromic postaxial polydactyly type… read more here.
Keywords: phenotype; limb; fam92a; postaxial polydactyly ... See more keywords
Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.83
Abstract: Polydactyly is characterized by an extra supernumerary digit/toe with or without bony element. To date variants in four genes GLI3, ZNF141, MIPOL1 and PITX1 have been implicated in developing non-syndromic form of polydactyly. The present… read more here.
Keywords: post axial; axial polydactyly; iqce gene; gene ... See more keywords
Long-Term Outcomes After Treatment for Type B Ulnar Polydactyly
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DOI: 10.1097/bpo.0000000000002106
Abstract: Background: Type B ulnar polydactyly is a common congenital hand difference and can be treated with either ligation or surgical excision. There is a paucity of literature, however, evaluating long-term patient reported outcomes of these… read more here.
Keywords: polydactyly; ligation; type ulnar; ulnar polydactyly ... See more keywords
Isolated heptadactylia
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DOI: 10.1097/md.0000000000008324
Abstract: Rationale: Heptadactylia is a rare congenital disorder from the polydactyly family. Polydactyly is generally classified into 3 major groups: preaxial (medial ray), postaxial (lateral ray), and central polydactyly. Most common cases are related to preaxial… read more here.
Keywords: isolated heptadactylia; central polydactyly; foot; duplication ... See more keywords
A review of polydactyly and its inheritance: Connecting the dots
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DOI: 10.1097/md.0000000000032060
Abstract: Objective: This study collects what is known about the inheritance underpinnings of syndromic and non-syndromic polydactylies and highlights dactyly presentations with unknown genetic roots. This review summarizes the current information and genetics-enhanced understanding of polydactyly.… read more here.
Keywords: polydactyly inheritance; connecting dots; review polydactyly; polydactyly ... See more keywords
Polydactyly a review and update of a common congenital hand difference.
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DOI: 10.1097/mop.0000000000000871
Abstract: PURPOSE OF REVIEW The purpose of this review is to describe various forms of hand polydactyly and their different treatment approaches. Hand polydactyly is commonly classified as ulnar (small finger) or radial (thumb). Polydactyly can… read more here.
Keywords: review; hand; hand difference; congenital hand ... See more keywords
GLI3‐related polydactyly: a review
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DOI: 10.1111/cge.12952
Abstract: GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of GLI3‐related polydactyly are discussed first. This is followed by… read more here.
Keywords: related polydactyly; polydactyly review; review; gli3 related ... See more keywords
Genetic overview of postaxial polydactyly: Updated classification
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DOI: 10.1111/cge.14224
Abstract: Polydactyly or polydactylism, also known as a hyperdactyly, is a congenital limb defect with various morphologic phenotypes. Apart from physical and functional impairments, the presence of polydactyly is an indication of an underlying syndrome in… read more here.
Keywords: polydactyly; postaxial polydactyly; updated classification; polydactyly updated ... See more keywords