A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

The phenotype of patients with a chromosome 1q43q44 microdeletion (OMIM; 612337) is characterized by intellectual disability with no or very limited speech, microcephaly, growth retardation, a recognizable facial phenotype, seizures, and agenesis of the corpus callosum. Comparison of patients with d...

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Dades bibliogràfiques
Autors principals: de Munnik, Sonja A, García-Miñaúr, Sixto, Hoischen, Alexander, van Bon, Bregje W, Boycott, Kym M, Schoots, Jeroen, Hoefsloot, Lies H, Knoers, Nine VAM, Bongers, Ernie MHF, Brunner, Han G
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2014
Matèries:
Short Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4023223/
https://ncbi.nlm.nih.gov/pubmed/24193349
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.249
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