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Beheshtian, Maryam; Fattahi, Zohreh; Fadaee, Mahsa; Vazehan, Raheleh; Jamali, Payman; Parsimehr, Elham; Kamgar, Mahboubeh; Zonooz, Mehrshid Faraji; Mahdavi, Shokouh Sadat; Kalhor, Zahra; Arzhangi, Sanaz; Abedini, Seyedeh Sedigheh; Kermani, Farahnaz Sabbagh; Mojahedi, Faezeh; Kalscheuer, Vera M.; Ropers, Hans‐Hilger; Kariminejad, Ariana; Najmabadi, Hossein; Kahrizi, Kimia
Clinical genetics, June 2019, 2019-06-00, 20190601, Letnik: 95, Številka: 6Journal Article
Neurodevelopmental delay and intellectual disability (ID) can arise from numerous genetic defects. To date, variants in the EXOSC gene family have been associated with such disorders. Using next‐generation sequencing (NGS), known and novel variants in this gene family causing autosomal recessive ID (ARID) have been identified in five Iranian families. By collecting clinical information on these families and comparing their phenotypes with previously reported patients, we further describe the clinical variability of ARID resulting from alterations in the EXOSC gene family, and emphasize the role of RNA processing dysregulation in ARID. We described five Iranian families with autosomal recessive intellectual disability inherited disease‐causing variants in EXOSC gene family. This study emphasizes the role of the genes involving in RNA‐processing in cognitive disorders. Our patients' phenotype broadened the clinical variety of the EXOSC gene family variations that can affect clinical diagnosis of the patients.
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Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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