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Síndrome de Sotos: nueva mutación «sin sentido» del gen NSD1 que presenta cutis laxa neonatal
Sotos syndrome: a novel nonsense mutation in nsd1 gene, presenting with neonatal cutis laxa
E. Cortès-Saladelafonta, K. Arias-Sáeza, D. Esteban-Olivab, W. Coroleu-Lletgetb, P. Martín-Jiménezc, G. Pintos-Morelld,
a Servicio de Pediatría, Hospital Universitario Germans Trias i Pujol, Badalona, España
b Unidad de Neonatología, Hospital Universitario Germans Trias i Pujol, Badalona, España
c Centro de Análisis Genéticos, Zaragoza, España
d Sección de Nefrología Pediátrica, Genética y Metabolismo, Servicio de Pediatría, Hospital Universitario Germans Trias i Pujol, Badalona, Universidad Autónoma de Barcelona, Barcelona, España
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