Ortal Barel

Abstract Telomere biology disorders (TBDs) are characterized by bone marrow failure (BMF) and dysfunctional telomeres. So far, inherited mutations in 18 genes have been identified in TBDs. Here, we describe a child presenting with early BMF, immunodeficiency, and severely short and defective telomeres, carrying a homozygous splicing mutation (c.409-2 A > G; p.Q136_K138del) in RPA2 – a known replication factor and telomerase accessory factor.

CLINICAL CORRESPONDENCE A Case of Pediatric Atypical Pseudoxanthoma Elasticum Sarit Gilboa, Corresponding Author Sarit Gilboa Department of Dermatology, Sheba Medical Center, Ramat Gan, Israel Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel Correspondence: Sarit Gilboa (sarit.gilboa@sheba.health.gov.il) Search for more papers by this authorOrtal Barel, Ortal Barel Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel Genomics Unit, Sheba...