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Ortal Barel

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Articles

A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder - European Journal of Human Genetics

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By Amos Simon, Monica Neustadter-Blackman, Atar Lev, Omri Nayshool, Raizy Kellerman, Fabian Glaser, Shiran Levy, Riham Smoom, Ortal Barel, Amarilla B. Mandola, Miriam Regev, Shachar Naor, Etai Adam, Yehuda Tzfati, Raz Somech
| Nature Verified
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.
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A Case of Pediatric Atypical Pseudoxanthoma Elasticum

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By Einat Lahav, Sarit Gilboa, Ortal Barel, Elisheva Javasky
| Wiley Online Library Verified
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...
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