Article
A new overgrowth syndrome is due to mutations in RNF125.
Human mutation - 1 Dec 2014
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
Abstract excerpt
Overgrowth syndromes (OGS) are a group of disorders in which all parameters of growth and physical development are above the mean for age and sex. We evaluated a series of 270 families from the Spanish Overgrowth Syndrome Registry with no known OGS. We identified one de novo deletion and three missense mutations in RNF125 in six patients from four families with overgrowth, macrocephaly, intellectual disability,...
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