Article
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.
Bone - 1 Sept 2018
Palagano Eleonora, Zuccarini Giulia, Prontera Paolo, Borgatti Renato, Stangoni Gabriela, Elisei Sandro, Mantero Stefano, Menale Ciro, Forlino Antonella, Uva Paolo, Oppo Manuela, Vezzoni Paolo, Villa Anna, Merlo Giorgio R, Sobacchi Cristina
Abstract excerpt
Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, short stature and intellectual disability. We analyzed an Indian family with two affected siblings by exome sequencing and identified a novel homozygous truncating mutation in the Neuroblastoma-Amplified Sequence (NBAS) gene in the patients' genome. Mutations in the...
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