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
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23924
Abstract: Polydactyly is one of the most frequent inherited defects of the limbs characterized by supernumerary digits and highâgenetic 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
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Bone and Mineral Research"
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
Morphological Changes in Postaxial Polydactyly of the Foot: A Standardized Quantitative Analysis Using the Watanabe-Fujita Classification.
Sign Up to like & getrecommendations! Published in 2023 at "Plastic and reconstructive surgery"
DOI: 10.1097/prs.0000000000010565
Abstract: BACKGROUND Postaxial polydactyly of the foot is one of the most common congenital abnormalities. A wide forefoot, short toe, and lateral joint deviation are associated with aesthetic and functional outcomes. This study used the Watanabe-Fujita… read more here.
Keywords: watanabe fujita; classification; fujita classification; postaxial polydactyly ... 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
Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.887082
Abstract: Postaxial polydactyly is a common congenital malformation which involves complex genetic factors. This retrospective study analyzed the cytogenetic and molecular results of a Chinese fetus diagnosed with postaxial polydactyly of all four limbs. Fetal karyotyping… read more here.
Keywords: smoothened smo; polydactyly; allelic variants; case report ... See more keywords
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14040869
Abstract: Polydactyly is a rare autosomal dominant or recessive appendicular patterning defect of the hands and feet, phenotypically characterized by the duplication of digits. Postaxial polydactyly (PAP) is the most common form and includes two main… read more here.
Keywords: gli1 kiaa0825; gli1; postaxial polydactyly; identification gli1 ... See more keywords