Genetic hair disorders, although unusual, are not very rare, and dermatologists often have
opportunities to see patients. Significant advances in molecular genetics have led to …

Congenital cataract is the most common cause of lifelong visual loss in children worldwide,
which has significant genotypic and phenotypic heterogeneity. The LSS gene encodes …

IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia,
and photophobia. Previous research found that mutations in MBTPS2, encoding site-2 …

Skin lesions, cataracts, and congenital anomalies have been frequently associated with
inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) …

Purpose: Multi-omics offer worthwhile and increasingly accessible technologies to
diagnostic laboratories seeking potential second-tier strategies to help patients with …

Aim: Hypotrichosis simplex (MIM 146520) is a rare form of monogenic hereditary alopecia.
Several genes have been identified as being associated with the disease, including LPAR6 …

Palmoplantar keratoderma-congenital alopecia syndrome type 2 is an autosomal recessive
disorder with an unknown genetic basis. In this study, we identified biallelic variants in the …

As a typical triazole fungicide, difenoconazole is extensively used to control plant diseases;
however, its residue in environmental waters poses a risk to aquatic organisms. In this study …

Hypotrichosis simplex (HS) is a rare form of hereditary alopecia caused by a variety of
genetic mutations. Currently, only four studies regarding LSS‐related HS have been …

Bacterial infections of the reproductive system of dairy cows lead to inflammation, and
lipopolysaccharide (LPS) of the cell wall of Gram-negative bacteria is the main pathogenic …