Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene
| Title: | Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene |
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| Authors: | Giacomini T; Vari MS; Janis S; Prato G; Pisciotta L; Rocchi A; Michelucci A; Di Rocco M; Gandullia P; Mattioli G; Sacco O; Morana G; Mancardi MM. |
| Contributors: | Giacomini T; Vari MS; Janis S; Prato G; Pisciotta L; Rocchi A; Michelucci A; Di Rocco M; Gandullia P; Mattioli G; Sacco O; Morana G; Mancardi MM. |
| Publication Year: | 2019 |
| Collection: | Università degli studi di Torino: AperTo (Archivio Istituzionale ad Accesso Aperto) |
| Document Type: | article in journal/newspaper |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/wos/WOS:000484998200010; volume:50; firstpage:327; lastpage:331; numberofpages:5; journal:NEUROPEDIATRICS; http://hdl.handle.net/2318/1752332; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072058489 |
| DOI: | 10.1055/s-0039-1692141 |
| Availability: | http://hdl.handle.net/2318/1752332; https://doi.org/10.1055/s-0039-1692141 |
| Rights: | info:eu-repo/semantics/closedAccess |
| Accession Number: | edsbas.302F8767 |
| Database: | BASE |