Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor

Jacobsen syndrome (OMIM #147791) is a rare contiguous gene disorder caused by deletions in distal 11q. The clinical phenotype is variable and can include dysmorphic features, varying degrees of intellectual disability, behavioral problems including autism and attention deficit hyperactivity disorder...

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Detalles Bibliográficos
Autores principales: Tootleman, Eva, Malamut, Barbara, Akshoomoff, Natacha, Mattson, Sarah N., Hoffman, Hal M., Jones, Marilyn C., Printz, Beth, Shiryaev, Sergey A., Grossfeld, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549550/
https://www.ncbi.nlm.nih.gov/pubmed/31160359
http://dx.doi.org/10.1101/mcs.a004010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549550/
https://www.ncbi.nlm.nih.gov/pubmed/31160359
http://dx.doi.org/10.1101/mcs.a004010

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