Clinical phenotype of germline RUNX1 haploinsufficiency: From point mutations to large genomic deletions

European Journal of Human Genetics

Volumn 16, Issue 8, 2008, Pages 1014-1018

  Béri Dexheimer, Mylène ^a   Latger Cannard, Véronique ^b   Philippe, Christophe ^a   Bonnet, Céline ^a   Chambon, Pascal ^a   Roth, Virginie ^a   Grégoire, Marie José ^a   Bordigoni, Pierre ^c   Lecompte, Thomas ^b   Leheup, Bruno ^c   Jonveaux, Philippe ^a  

^a CHU NANCY BRABOIS   (France)

^b INSERM   (France)

^c UNIVERSITY HOSPITAL OF NANCY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE; ARACHIDONIC ACID; CD63 ANTIGEN; COLLAGEN; THROMBIN RECEPTOR ACTIVATING PEPTIDE; TRANSCRIPTION FACTOR RUNX1;

ACUTE GRANULOCYTIC LEUKEMIA; ARTICLE; BLAST CELL; BONE MARROW TRANSPLANTATION; CASE REPORT; CHILD; CHROMOSOME 21Q; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; GENE DELETION; GERM LINE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; LOW BIRTH WEIGHT; MALE; MENTAL DEFICIENCY; MENTAL PATIENT; MICROCEPHALY; MUSCLE HYPOTONIA; MYELODYSPLASIA; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SHORT STATURE; THROMBOCYTE DISORDER; THROMBOCYTOPENIA;

BLOOD PLATELET DISORDERS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 21; CORE BINDING FACTOR ALPHA 2 SUBUNIT; DNA; FEMALE; GENOME, HUMAN; HUMANS; MALE; MENTAL RETARDATION; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; THROMBOCYTOPENIA;

EID: 48349142469     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.89     Document Type: Article

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