Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome

2003 ◽  
Vol 126A (3) ◽  
pp. 293-298 ◽  
Author(s):  
Dagmar von Bubnoff ◽  
Martina Kreiß-Nachtsheim ◽  
Natalija Novak ◽  
Eva Engels ◽  
Hartmut Engels ◽  
...  
Keyword(s):  
Primary Immunodeficiency ◽  
Upper Limb ◽  
Anal Atresia ◽  
Jacobsen Syndrome ◽  
Limb Defect

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

2015 ◽  
Vol 35 (8) ◽  
pp. 761-768 ◽  
Author(s):  
Virgil A. S. H. Dalm ◽  
Gertjan J. A. Driessen ◽  
Barbara H. Barendregt ◽  
Petrus M. van Hagen ◽  
Mirjam van der Burg
Keyword(s):  
Primary Immunodeficiency ◽  
Terminal Deletion ◽  
Jacobsen Syndrome

Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption

2010 ◽  
Vol 152A (4) ◽  
pp. 1033-1035 ◽  
Author(s):  
Hideki Fujita ◽  
Tadahiro Yanagi ◽  
Rika Kosaki ◽  
Chiharu Torii ◽  
Masahiro Bamba ◽  
...  
Keyword(s):  
Jacobsen Syndrome ◽  
Limb Defect

A case of fetal anticonvulsant syndrome with severe bilateral upper limb defect

2006 ◽  
Vol 19 (2) ◽  
pp. 115-117 ◽  
Author(s):  
Meli˙h Atahan Guven ◽  
Cem Batukan ◽  
Serdar Ceylaner ◽  
Gülay Ceylaner ◽  
Murat Uzel
Keyword(s):  
Upper Limb ◽  
Limb Defect
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