Results 11 to 20 of about 17,999 (210)

Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway

Molecular Genetics & Genomic Medicine, 2022
Background Polydactyly and syndactyly are congenital limb deformities, segregating in an autosomal‐dominant fashion. The variants in the GLI3 gene are closely related to congenital limb malformations.
Xiaofang Shen, Shun Zhang, Xin Zhang, Taifeng Zhou, Yongjun Rui   +4 more
doaj   +2 more sources

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

Molecular Genetics & Genomic Medicine, 2019
Background Polydactyly is a common genetic limb deformity characterized by the presence of extra fingers or toes. This anomaly may occur in isolation (nonsyndromic) or as part of a syndrome.
Muhammad Umair, Naveed Wasif, Alia M. Albalawi, Khushnooda Ramzan, Majid Alfadhel, Wasim Ahmad, Sulman Basit   +6 more
doaj   +2 more sources

Case Report: A de novo CTNNB1 Nonsense Mutation Associated With Neurodevelopmental Disorder, Retinal Detachment, Polydactyly

Frontiers in Pediatrics, 2020
CTNNB1 gene mutation was firstly reported related to intellectual disability in 2012, to explore the clinical phenotype and genotype characteristics of CTNNB1 mutation, we collected and analyzed the clinical data of a child with a neurodevelopmental ...
Zhongling KE, Yanhui CHEN
doaj   +2 more sources

Identification of novel mutations in preaxial polydactyly patients through whole‐exome sequencing

Molecular Genetics & Genomic Medicine, 2019
Background Polydactyly is one of the most common hereditary limb malformation characterized by additional digits in hands and/or feet. With extra fingers/toes, which could be very problematic, polydactyly patients are usually treated in early childhood ...
Tao Wang, Zhaopeng Xuan, Yichen Dou, Yang Liu, Yanyan Fu, Jingyan Ren, Laijin Lu   +6 more
doaj   +2 more sources

Polydactyly: Clinical and molecular manifestations

World Journal of Orthopaedics, 2023
Polydactyly is a malformation during the development of the human limb, which is characterized by the presence of more than the normal number of fingers or toes. It is considered to be one of the most common inherited hand disorders.
Zisis Kyriazis, Panagoula Kollia, I. Grivea, N. Stefanou, S. Sotiriou, Zoe H Dailiana   +5 more
semanticscholar   +1 more source

A review of polydactyly and its inheritance: Connecting the dots

Medicine, 2022
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.
Dalal K Bubshait
semanticscholar   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome. [PDF]

Clin Genet
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Showpnil IA, Feinstein-Goren N, Greenbaum L, Barel O, Koboldt DC, Brugmann SA, Weaver KN, Slavotinek A, Pode-Shakked B, Stottmann RW.   +9 more
europepmc   +2 more sources

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

Genomics, 2021
Polydactyly or hexadactyly is characterized by an extra digit/toe with or without a bone. Currently, variants in ten genes have been implicated in the non-syndromic form of polydactyly.
Muhammad Umair, O. Palander, M. Bilal, B. Almuzzaini, Q. Alam, F. Ahmad, M. Younus, Amjad Khan, Ahmad Waqas, M. Alfadhel   +9 more
semanticscholar   +1 more source

Soft tissue abnormalities in Wassel Type VI radial polydactyly: a detailed anatomical study

Journal of Hand Surgery (European Volume), 2021
Wassel VI radial polydactyly is associated with metacarpal adduction and radial deviation of the metacarpophalangeal joint of the ulnar duplicate. The soft tissue abnormalities responsible for these deformities were characterized using preoperative multi-
S. Saito, I. Tsuge, H. Yamanaka, N. Morimoto   +3 more
semanticscholar   +1 more source

Surgical treatment of bilateral preaxial polydactyly with syndactyly of the hallux in the foot in a 10 month old male: A pediatric case study

Foot & Ankle Surgery: Techniques, Reports & Cases, 2022
Polydactyly is recognized to be one of the most common hereditary limb deformities. Preaxial polydactyly with osseous involvement is rarely seen. We present a case of a bilateral preaxial polydactyly of the hallux complicated by syndactyly of the first ...
Amida Kuah, DPM, Anthony Mollica, DPM, FACFAS   +1 more
doaj   +1 more source