Results 21 to 30 of about 20,549 (261)

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

Preaxial Polydactyly in an Elderly Woman

Case Reports in Orthopedics, 2022
A 70-year-old woman born and raised in India presented with Wassel type IV preaxial polydactyly of the right thumb and difficulty performing daily activities.
Barkha Chhabra, Richy Charls, John J. Faillace   +2 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

Polydactyly 24 in a Female Neonate [PDF]

Case Reports in Obstetrics and Gynecology, 2013
Polydactyly is perhaps one of the most common congenital hand and foot anomalies. Tetrapolydactyly (polydactyly 24) is a very rare form of hand and foot anomalies.
Oluseyi O. A. Atanda, Kola M. Owonikoko, Adewale S. Adeyemi, Olanrewaju Bajowa   +3 more
doaj   +2 more sources

Polydactyly in the Tyrrhenian wall lizard (Podarcis tiliguerta)

Acta Herpetologica, 2013
Polydactyly is a fairly frequent phenomenon in tetrapod populations, but it is relatively rare in reptiles. Here we report the occurrence of polydactyly in a random sample of the Tyrrhenian wall lizard (Podarcis tiliguerta) from Sardinia. In the locality
Antigoni Kaliontzopoulou, Daniele Salvi, Verónica Gomes, João Maia, Panagiotis Kaliontzopoulos   +4 more
doaj   +3 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

Thumb Polydactyly: Clinical Outcome after Reconstruction

Journal of Orthopaedic Surgery, 2006
Purpose. To evaluate clinical and cosmetic outcomes of reconstruction in thumb polydactyly and prognostic value of the Wassel classification. Methods.
CH Yen, WL Chan, HB Leung, KH Mak
exaly   +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

Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy [PDF]

BMC Ophthalmology
Background Leber congenital amaurosis (LCA) is one of the earliest-onset and most severe forms of inherited retinal disease, and Bardet-Biedl syndrome (BBS) is a rare non-motile primary ciliopathy with a diverse multi-organ phenotype.
Liang Wang, Manhong Li, Guorui Dou, Jiaxing Sun, Ziyi Zhou, Yusheng Wang, Zifeng Zhang   +6 more
doaj   +2 more sources

Polydactyly [PDF]

American Journal of Obstetrics and Gynecology, 2019
Abstract This chapter reviews background information about the prevalence, sex ratio, genetics, recurrence risk and epidemiology of isolated and syndromic preaxial, postaxial and mesoaxial (central) polydactyly of the hands and feet. Various patterns of isolated and bilateral polydactyly and common associated malfomations (syndactyly ...
Martha W F, Rac, Jennifer, McKinney, Manisha, Gandhi   +2 more
openaire   +3 more sources