Progressive pseudorheumatoid dysplasia (PPRD) is a genetic, non‐inflammatory
arthropathy caused by recessive loss of function mutations in WISP3 (Wnt1‐inducible …

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS
genes have been cloned, they explain only 40–50% of the total mutational load. Here we …

We present clinical, radiological, biochemical, and genetic findings on six patients from two
consanguineous families that show EDS-like features and radiological findings of a mild …

Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic
face, short stature, various organ malformations, and a variable degree of intellectual …

Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular
condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying …

Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset
growth deficiency, short stature, an erythematous photosensitive malar rash, and increased …

Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several
human diseases, such as neurodegenerative diseases. The RNA splicing process is …

DNA lesions encountered by replicative polymerases threaten genome stability and cell
cycle progression. Here we report the identification of mutations in TRAIP, encoding an E3 …

The atonal homolog 7 (ATOH7) gene encodes a transcription factor involved in determining
the fate of retinal progenitor cells and is particularly required for optic nerve and ganglion …

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We
aim to delineate the entity by studying a large group of affected individuals. We gathered …