Erratum: Corrigendum: Sarcoidosis is associated with a truncating splice site mutation in the gene BTNL2

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

a novel splice site mutation in hps1 gene is associated with hermansky-pudlak syndrome-1 (hps1) in an iranian family

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Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...

BTNL2 gene variant and sarcoidosis.

is a safe test when performed in experienced centres. Indeed, a review of .6500 ITTs reported that only seven patients (0.1%) experienced an adverse event, all of which reversed following intravenous glucose. To our knowledge, only two studies have used the ITT to investigate the HPA axis in asthmatic children treated with inhaled fluticasone. The first reported an inadequate response to insuli...

Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene

PURPOSE To present the ocular findings of a Hungarian family with X-linked juvenile retinoschisis (XLRS) and to reveal a novel putative splice mutation leading to serious truncation of retinoschisin (RS1) protein. Our genetic results were compared to a mouse model of XLRS. METHODS Complete ophthalmic examinations were performed on five members (two male patients, two female carriers, and one ...