Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and
gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding …

We describe a distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is
consequent upon biallelic mutation in BEST1 and is associated with central visual loss, a …

Purpose Heterozygous germline PTCH1 mutations are causative of Gorlin syndrome (naevoid
basal cell carcinoma), but detection rates > 70% have rarely been reported. We aimed to …

Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive
condition characterized by sensorineural hearing loss and ovarian failure. By a combination of …

Objective Systemic lupus erythematosus (SLE) is a prototype autoimmune disease that is
assumed to occur via a complex interplay of environmental and genetic factors. Rare causes of …

Bestrophin-1 is preferentially expressed at the basolateral membrane of the retinal pigmented
epithelium (RPE) of the retina. Mutations in the BEST1 gene cause the retinal dystrophies …

Amelogenesis imperfecta (AI) describes a clinically and genetically heterogeneous group of
disorders of biomineralization resulting from failure of normal enamel formation. AI is found …

Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare
autosomal-recessive neurological disorder showing highly characteristic clinical and …

Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic
causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of …

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing
loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset …