Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

BACKGROUND: In developed countries, global developmental disorders are encountered in approximately 1% of all children. The causes are manifold, and no exogenous cause can be identified in about half of the affected children. The parallel investigation of the coding sequences of all genes of the aff...

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Publicado en:Dtsch Arztebl Int
Autores principales: A. Mahler, Elisa, Johannsen, Jessika, Tsiakas, Konstantinos, Kloth, Katja, Lüttgen, Sabine, Mühlhausen, Chris, Alhaddad, Bader, B. Haack, Tobias, M. Strom, Tim, Kortüm, Fanny, Meitinger, Thomas, C. Muntau, Ania, Santer, René, Kubisch, Christian, Lessel, Davor, Denecke*, Jonas, Hempel*, Maja
Formato: Artigo
Lenguaje:Inglês
Publicado: Deutscher Arzte Verlag 2019
Materias:
Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6514384/
https://ncbi.nlm.nih.gov/pubmed/31056085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3238/arztebl.2019.0197
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