The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency

BACKGROUND: Jacobsen syndrome (JS) is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. Clinical features include physical and mental growth retardation, facial dysmorphism, thrombocytopenia, impaired platelet function and pancytopenia. In case reports, rec...

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Detalles Bibliográficos
Autores principales: Dalm, Virgil A. S. H., Driessen, Gertjan J. A., Barendregt, Barbara H., van Hagen, Petrus M., van der Burg, Mirjam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659842/
https://www.ncbi.nlm.nih.gov/pubmed/26566921
http://dx.doi.org/10.1007/s10875-015-0211-z

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