Pathogenic biallelic variants in LSS are associated with three Mendelian rare disease traits
including congenital cataract type 44, autosomal recessive hypotrichosis type 14, and …

Purpose Lanosterol synthase (LSS) gene was initially described in families with extensive
congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis …

Ischemic stroke is one of the most common neurological diseases. However, the impact of
ischemic stroke on human cerebral tissue remains largely unknown due to a lack of …

Alopecia‐mental retardation syndrome (APMR) is a rare autosomal recessive neuro‐dermal
disorder. It is characterized by heterogeneous phenotypic features, that is, absence of hair …

Netherton syndrome (NS) is a rare skin disease caused by loss-of-function mutations in the
serine peptidase inhibitor Kazal type 5 (SPINK5) gene. Disease severity and the lack of …

Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by
predominant involvement of articular cartilage with progressive joint stiffness. Here we report …

Besides respiratory illness, SARS-CoV-2, the causative agent of COVID-19, leads to
neurological symptoms. The molecular mechanisms leading to neuropathology after SARS …

Background Infantile cortical hyperostosis (ICH)/Caffey disease is an inflammatory
collagenopathy of infancy, manifested by subperiosteal bone hyperplasia. Genetically, ICH …

Background Polycystic ovarian syndrome (PCOS) is a commonly occurring reproductive
disorder among the reproductive-aged women. Its global occurrence varies based on …

Alopecia intellectual disability syndromes 4 (APMR4) caused by Lanosterol synthase (LSS)
gene variants is a very rare autosomal recessive neuroectodermal syndrome. It is …