Primary Immunodeficiency in Combination with Transverse Upper Limb Defect and Anal Atresia in a 34-Year-Old Patient with Jacobsen Syndrome

American Journal of Medical Genetics

Volumn 126 A, Issue 3, 2004, Pages 293-298

  Von Bubnoff, Dagmar ^a   Kreiß Nachtsheim, Martina ^a   Novak, Natalija ^a   Engels, Eva ^a,c   Engels, Hartmut ^a   Behrend, Claudia ^c   Propping, Peter ^a   De La Salle, Henri ^b   Bieber, Thomas ^a  

^a UNIVERSITY OF BONN   (Germany)

^b Etab Francais du Sang Alsace   (France)

^c Genetics Laboratory   (Germany)

Author keywords

Jacobsen syndrome; T cell deficiency; Upper transverse limb defect

Indexed keywords

IMMUNOGLOBULIN M;

ADULT; ANUS ATRESIA; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CRYPTORCHISM; DISEASE ASSOCIATION; FUNCTIONAL DISEASE; HEARING IMPAIRMENT; HELPER CELL; HUMAN; HYPOSPADIAS; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; INFECTION SENSITIVITY; JACOBSEN SYNDROME; KARYOTYPE 46,XY; LIMB DEFECT; MALE; MENTAL DEFICIENCY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SHORT STATURE; STRABISMUS; THROMBOCYTOPENIA;

EID: 1842563095     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20592     Document Type: Article

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