Abstract Protein O-mannosyltransferase 1 (POMT1) is a critical enzyme participating in the
first step of protein O-mannosylation. Mutations in the coding gene, POMT1, have been …

Background The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key
enzyme in the glycosylation of α-dystroglycan. POMT1–related disorders belong to the …

Heterotaxy (HTX), a condition characterized by internal organs not being arranged as
expected relative to each other and to the left-right axis, is often accompanied with …

Leber congenital amaurosis (LCA) is a heterogeneous, early‐onset inherited retinal
dystrophy, which is associated with severe visual impairment. We aimed to determine the …

The aim of this study is to analyze the epidemiology of the clinical and genetic features of
childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In …

Retinal dystrophy is an inherited, heterogeneous, chronic and progressive disorder of visual
functions. The mutations of patients with autosomal recessive retinal retinopathy cone‐and …

The formation of left–right asymmetry of the visceral organs is a conserved feature of the
human body, and the asymmetry specification of structure and function is precisely …

Limb-girdle muscular dystrophies (LGMD) are hereditary genetic disorders characterized by
progressive muscle impairment which predominantly include proximal muscle weaknesses …

Leukocyte adhesion deficiency-III (LAD3) is an extremely rare primary immunodeficiency
disorder, transmitted with autosomal-recessive inheritance. It is caused by genetic alteration …

Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder primarily
characterized by multiple café-au-lait macules, peripheral neurofibromas, skinfold freckling …