von Bubnoff, Dagmar <br/><br/>
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  Apr 2004 
 - 293-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4825 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.20592  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adult<br/>Anus, Imperforate--genetics<br/>Chromosomes, Human, Pair 11--genetics<br/>Dysgammaglobulinemia--genetics<br/>Female<br/>Humans<br/>Immunoglobulin M--deficiency<br/>Karyotyping<br/>Limb Deformities, Congenital--genetics<br/>Male<br/>Phenotype<br/>Psychomotor Disorders--complications<br/>Syndrome