The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110

Prenatal Diagnosis

Volumn 27, Issue 7, 2007, Pages 674-676

  Cliffe, Simon T ^a,b   Wong, Melanie ^c   Taylor, Peter J ^b   Ruga, Ezia ^d   Wilcken, Bridget ^c   Lindeman, Robert ^a,b   Buckley, Michael F ^a,b   Roscioli, Tony ^a,b,e  

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

^b PRINCE OF WALES HOSPITAL   (Australia)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d UNIVERSITY OF PADOVA   (Italy)

^e ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

Chorionic villus sample (CVS); Veno occlusive disease with immunodeficiency (VODI)

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNE DEFICIENCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SP110 GENE; VEIN OCCLUSION;

CHORIONIC VILLI SAMPLING; CODON, NONSENSE; FEMALE; GENES, RECESSIVE; HEPATIC VENO-OCCLUSIVE DISEASE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; NUCLEAR PROTEINS; PREGNANCY;

EID: 34547176146     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1759     Document Type: Article

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