scholarly journals Postaxial polydactyly

2022 ◽  
Author(s):  
razan alayed
Keyword(s):  
Postaxial Polydactyly

Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A

Genomics ◽  
2021 ◽  
Author(s):  
Muhammad Umair ◽  
Oliva Palander ◽  
Muhammad Bilal ◽  
Bader Almuzzaini ◽  
Qamre Alam ◽  
...  
Keyword(s):  
Type A ◽  
Candidate Locus ◽  
Postaxial Polydactyly

Pierquin Syndrome: Report of a New Case

2020 ◽  
Author(s):  
Francisco Cammarata-Scalisi ◽  
Colin Eric Willoughby ◽  
María Angelina Lacruz- Rengel ◽  
Enrico Silvio Bertini ◽  
Michele Callea
Keyword(s):  
Congenital Heart ◽  
Autosomal Recessive ◽  
Malformation Syndrome ◽  
Postaxial Polydactyly ◽  
Phenotypic Spectrum ◽  
Dandy Walker Malformation ◽  
Rare Malformation ◽  
Walker Malformation ◽  
Genetic Entity ◽  
Syndrome Report

AbstractPierquin syndrome is a rare genetic entity characterized by the association of Dandy–Walker malformation and postaxial polydactyly. The incidence is uncertain with only six cases previously reported in the literature. In this study, we reported a new case of Pierquin syndrome born from consanguineous parents, characterized by Dandy–Walker malformation, postaxial polydactyly, and congenital heart disease. The case reinforces an autosomal recessive modality of inheritance and expands the phenotypic spectrum of this rare malformation syndrome.

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

2019 ◽  
Vol 41 (1) ◽  
pp. 265-276
Author(s):  
Adrián Palencia‐Campos ◽  
María‐Luisa Martínez‐Fernández ◽  
Umut Altunoglu ◽  
Patricia Soto‐Bielicka ◽  
Antonio Torres ◽  
...  
Keyword(s):  
Common Finding ◽  
Postaxial Polydactyly ◽  
Pathogenic Variants

scholarly journals Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A

Genomics ◽  
2020 ◽  
Vol 112 (4) ◽  
pp. 2729-2733
Author(s):  
Amir Hayat ◽  
Muhammad Umair ◽  
Safdar Abbas ◽  
Abdur Rauf ◽  
Farooq Ahmad ◽  
...  
Keyword(s):  
Missense Variant ◽  
Type A ◽  
Postaxial Polydactyly
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