Mutations affecting ciliary components cause ciliopathies. As described here, we investigated
Tectonic1 (Tctn1), a regulator of mouse Hedgehog signaling, and found that it is essential …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals …

… a necklace as in c; in others, they form clusters (d; scale bar, 2 μm). The appearance of cristae
… We would also like to thank the physicians D. Creel, RO Hoffman and L. Al-Gazali for their …

De novo germline variants in several components of the SWI/SNF‐like BAF complex can
cause C offin– S iris syndrome ( CSS ), N icolaides– B araitser syndrome ( NCBRS ), and …

Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …

Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at
onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral …

Stickler syndrome is an autosomal dominant connective tissue disorder caused by
mutations in different collagen genes. The aim of our study was to define more precisely the …

Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical
face and distal limbs abnormalities, intellectual disability, and a vast number of other features…

Pitt–Hopkins syndrome (PTHS), characterized by severe intellectual disability and typical
facial gestalt, is part of the clinical spectrum of Rett‐like syndromes. TCF4, encoding a basic …

Mutations in the LMNA gene result in diverse phenotypes including Emery Dreifuss muscular
dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy with conduction system …