The mechanisms underlying gene repression and silencers are poorly understood. Here we
investigate the hypothesis that H3K27me3-rich regions of the genome, defined from clusters …

Purpose HOXD13 is an important regulator of limb development. Pathogenic variants in
HOXD13 cause synpolydactyly type 1 (SPD1). How different types and positions of HOXD13 …

During animal development, HOX transcription factors determine the fate of developing
tissues to generate diverse organs and appendages. The power of these proteins is striking …

Syndactyly is the most common limb defect depicting the bony and/or cutaneous fusion of
digits. Syndactyly can be of various types depending on the digits involved in the fusion. To …

Background Polydactyly and syndactyly are the most common hereditary limb
malformations. Molecular genetic testing is of great significance for hereditary limb …

The mutations of HOXD13 gene have been involved in synpolydactyly (SPD), and the
polyalanine extension mutation of Hoxd13 gene could lead to SPD in mice. In this study, a …

Background and methods Syndactyly is a congenital disorder caused by an irregularity in
limb formation during the embryonic development. Many studies have demonstrated the …

A comprehensive summary of recent knowledge in syndactyly (SD) is important for
understanding the genetic etiology of SD and disease management. Thus, this review article …

GNE myopathy is a rare, recessively inherited, early adult‐onset myopathy, characterized by
distal and proximal muscle degeneration which often spares the quadriceps. It is caused by …

Synpolydactyly is a congenital limb malformation characterized by incomplete separation
and duplication in fingers and/or toes, which is mainly caused by mutations in the homeobox …