p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia,
and cleft lip/palate), as well as with nonsyndromic split hand–split foot malformation (…

Identifying mutations that cause specific osteochondrodysplasias will provide novel insights
into the function of genes that are essential for skeletal morphogenesis. We report here that …

Protein-protein interaction analyses have uncovered a ciliary and basal body protein network
that, when disrupted, can result in nephronophthisis (NPHP), Leber congenital amaurosis, …

Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions
characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability …

Cellular organelles provide opportunities to relate biological mechanisms to disease. Here
we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood …

Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within
a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on …

Background Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised
by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, …

Leber congenital amaurosis (LCA) is the most severe form of retinal dystrophy with an onset
in the first year of life. The most frequent genetic cause of LCA, accounting for up to 15% of …

Multiple epiphyseal dysplasia, an autosomal dominant disease, is among the more common
inherited osteochondrodysplasias. Symptoms range from stiffness and pain in large joints to …

RPGR-interacting protein 1 (RPGRIP1) is a key component of cone and rod photoreceptor
cells, where it interacts with RPGR (retinitis pigmentosa GTPase regulator). Mutations in …