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Titel:

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Dokumenttyp:
Journal Article; Article
Autor(en):
Kim, Jung-Hyun; Shinde, Deepali N; Reijnders, Margot R F; Hauser, Natalie S; Belmonte, Rebecca L; Wilson, Gregory R; Bosch, Daniëlle G M; Bubulya, Paula A; Shashi, Vandana; Petrovski, Slave; Stone, Joshua K; Park, Eun Young; Veltman, Joris A; Sinnema, Margje; Stumpel, Connie T R M; Draaisma, Jos M; Nicolai, Joost; Yntema, Helger G; Lindstrom, Kristin; de Vries, Bert B A; Jewett, Tamison; Santoro, Stephanie L; Vogt, Julie; Bachman, Kristine K; Seeley, Andrea H; Krokosky, Alyson; Turner, Clesson;...     »
Abstract:
The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detailed analyses conclusively confirming these variants, as well as the underlying molecular mechanisms explaining the diseases, are often lacking. Here, we report on an ID syndrome caused by de novo heterozygous loss-of-function (LoF) mutations in SON. Th...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2016
Band / Volume:
99
Heft / Issue:
3
Seitenangaben Beitrag:
711-719
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.ajhg.2016.06.029
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/27545680
Print-ISSN:
0002-9297
TUM Einrichtung:
Institut für Humangenetik
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