Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. [electronic resource]
Producer: 20040423Description: 293-8 p. digitalISSN:- 1552-4825
- Abnormalities, Multiple -- genetics
- Adult
- Anus, Imperforate -- genetics
- Chromosomes, Human, Pair 11 -- genetics
- Dysgammaglobulinemia -- genetics
- Female
- Humans
- Immunoglobulin M -- deficiency
- Karyotyping
- Limb Deformities, Congenital -- genetics
- Male
- Phenotype
- Psychomotor Disorders -- complications
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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