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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Xehetasun bibliografikoak
Argitaratua izan da:J Clin Immunol
Egile Nagusiak: Dalm, Virgil A. S. H., Driessen, Gertjan J. A., Barendregt, Barbara H., van Hagen, Petrus M., van der Burg, Mirjam
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer US 2015
Gaiak:
Original Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4659842/
https://ncbi.nlm.nih.gov/pubmed/26566921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-015-0211-z
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