Background: A novel autosomal recessive condition, dilated cardiomyopathy with ataxia
(DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite population …

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic
disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects …

Nager syndrome, first described more than 60 years ago, is the archetype of a class of
disorders called the acrofacial dysostoses, which are characterized by craniofacial and limb …

Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap
with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises …

Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein
cofactors; various human studies and animal models have demonstrated the importance of …

An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental
retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral …

Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases.
A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of …

Abstract The Hutterian Bretheren is an isolated population living on the North American
prairies, the current community exceeding 40,000 in number. Their unique genetic history …

We describe an X-linked genetic syndrome associated with mutations in TAF1 and
manifesting with global developmental delay, intellectual disability (ID), characteristic facial …

Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping
clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical …