Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization

Autor: Rodriguez-Lopez R, Gimeno-Ferrer F, Montesinos E, Ferrer-Bolufer I, Guzman Lujan C, Albuquerque D, Monzo Cataluna C, Ballesteros V, Perez-Gramunt M

Publikováno v: Genes
r-FIHGUV. Repositorio Institucional de Producción Científica de la Fundación de Investigación del Hospital General de Valencia
instname

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 hematologi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::844ec1f95fda8a876bad59d4fd1e8057
https://fundanet.fihgu.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1897