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Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization

Jacobsen syndrome or JBS (OMIM #147791) is a contiguous gene syndrome caused by a deletion affecting the terminal q region of chromosome 11. The phenotype of patients with JBS is a specific syndromic phenotype predominately associated with hematological alterations. Complete and partial JBS are diff...

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Detalles Bibliográficos
Autores principales:	Rodríguez-López, Raquel, Gimeno-Ferrer, Fátima, Montesinos, Elena, Ferrer-Bolufer, Irene, Luján, Carola Guzmán, Albuquerque, David, Cataluña, Carolina Monzó, Ballesteros, Virginia, Pérez-Gramunt, Monserrat Aleu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394748/ https://www.ncbi.nlm.nih.gov/pubmed/34440371 http://dx.doi.org/10.3390/genes12081197

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