Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy

Journal of Allergy and Clinical Immunology

Volumn 132, Issue 1, 2013, Pages 222-223

  Geelen, Joyce ^a   Pfundt, Rolph ^a   Meijer, Judith ^b   Verheijen, Frans W ^c   Van Kuilenburg, Andre B P ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE DEFICIENCY; ADULT RESPIRATORY DISTRESS SYNDROME; ARTIFICIAL VENTILATION; CASE REPORT; CHROMOSOME 20Q; ERYTHRODERMA; FEMALE; FETUS MOVEMENT; HOMOZYGOSITY; HUMAN; LETTER; MICROCEPHALY; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SEVERE COMBINED IMMUNODEFICIENCY; UNIPARENTAL DISOMY;

EID: 84882873457     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2012.11.006     Document Type: Article

References (10)

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