Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal
dysplasia. The characteristic features of SIOD include 1) short stature with …

We describe a new family with a novel germline BAP1 nonsense mutation, c.723T>G, which
leads to a predicted truncated protein, p.Y241*, or nonsense-mediated decay of the BAP1 …

The sideroblastic anemias are a heterogeneous group of congenital and acquired hematological
disorders whose morphological hallmark is the presence of ringed sideroblasts—bone …

Primary microcephaly is a rare condition in which brain size is substantially diminished
without other syndromic abnormalities. Seven autosomal loci have been genetically mapped, …

We describe a large Acadian kindred including 8 Alström Syndrome (AS) patients, with an
age range of 4 to 26 at the time of clinical assessment. The affected subjects come from 5 …

… Cells were viewed with a Zeiss Axiovert 200 M microscope fitted with a plan-neofluor ×100
oil immersion lens. Images were captured using a Zeiss Axio Cam HR using Axiovision 4.5 …

Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically distinct
diseases caused by mutations in SMAD4 and BMPR1A (for JP) and endoglin and ALK1 (…

Ehlers‐Danlos syndrome (EDS) type VII results from defects in the conversion of type I
procollagen to collagen as a consequence of mutations in the substrate that alter the protease …

RNA interference (RNAi) is an across-kingdom gene regulatory and defense mechanism.
However, little is known about how organisms sense initial cues to mobilize RNAi. Here, we …

Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations
in the α-galactosidase A gene at Xq22.1. To determine the nature and frequency of the …