Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder

Introduction: Clinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to...

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Detalles Bibliográficos
Autores principales:	Nemirovsky, S.I., Córdoba, M., Zaiat, J.J., Completa, S.P., Vega, P.A., González-Morón, D., Medina, N.M., Fabbro, M., Romero, S., Brun, B., Revale, S., Ogara, M.F., Pecci, A., Marti, M., Vazquez, M., Turjanski, A., Kauffman, M.A.
Formato:	JOUR
Materias:	cytosine nerve protein SHANK3 protein, human Article autism bioinformatics case report clinical feature codon disease severity epilepsy exon family history family study gene deletion gene location gene mutation gene sequence genetic variability germ line heterozygosity human intellectual impairment language disability male mental deficiency mental disease missense mutation mosaicism parent Sanger sequencing sequence analysis SHANK3 gene sibling stop codon Whole Genome Sequencing child dna mutational analysis female genetics genomics mutation nucleotide sequence pedigree preschool child Autism Spectrum Disorder Base Sequence Child Child, Preschool DNA Mutational Analysis Female Genomics Humans Male Mosaicism Mutation Nerve Tissue Proteins Pedigree Siblings
Acceso en línea:	http://hdl.handle.net/20.500.12110/paper_19326203_v10_n2_p_Nemirovsky
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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