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A new overgrowth syndrome is due to mutations in RNF125.
Tenorio, Jair; Mansilla, Alicia; Valencia, María; Martínez-Glez, Víctor; Romanelli, Valeria; Arias, Pedro; Castrejón, Nerea; Poletta, Fernando; Guillén-Navarro, Encarna; Gordo, Gema; Mansilla, Elena; García-Santiago, Fé; González-Casado, Isabel; Vallespín, Elena; Palomares, María; Mori, María A; Santos-Simarro, Fernando; García-Miñaur, Sixto; Fernández, Luis; Mena, Rocío; Benito-Sanz, Sara; del Pozo, Ángela; Silla, Juan Carlos; Ibañez, Kristina; López-Granados, Eduardo; Martín-Trujillo, Alex; Montaner, David; Heath, Karen E; Campos-Barros, Ángel; Dopazo, Joaquín; Nevado, Julián; Monk, David; Ruiz-Pérez, Víctor L; Lapunzina, Pablo.
Affiliation
  • Tenorio J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Molecular Endocrinology Unit - Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.
Hum Mutat ; 35(12): 1436-41, 2014 Dec.
Article in En | MEDLINE | ID: mdl-25196541
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Full text: 1 Database: MEDLINE Main subject: Ubiquitin-Protein Ligases / Growth Disorders / Mutation Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Year: 2014 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Database: MEDLINE Main subject: Ubiquitin-Protein Ligases / Growth Disorders / Mutation Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Year: 2014 Type: Article