Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: Case report

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Hamamy, Hanan ^a   Makrythanasis, Periklis ^a   Al Allawi, Nasir ^b   Muhsin, Abdulrahman A ^c   Antonarakis, Stylianos E ^a,d  

^a UNIVERSITY OF GENEVA   (Switzerland)

^b UNIVERSITY OF DUHOK   (Iraq)

^c UNIVERSITY OF BAGHDAD   (Iraq)

^d GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Familial; FYB gene; Iraq; Platelets; Recessive; Thrombocytopenia

Indexed keywords

AZATHIOPRINE; FYB PROTEIN; INTERLEUKIN 2; PROTEIN; STEROID; UNCLASSIFIED DRUG; FYB PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BONE MARROW BIOPSY; BONE MARROW CELL; CASE REPORT; CHILD; CLINICAL EVALUATION; CONSANGUINEOUS MARRIAGE; EPISTAXIS; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; INDEL MUTATION; INHERITED THROMBOCYTOPENIA; IRAQ; KNOCKOUT MOUSE; LOSS OF FUNCTION MUTATION; MALE; MEGAKARYOCYTE; MISSENSE MUTATION; NATURAL KILLER CELL; NONSENSE MUTATION; PRESCHOOL CHILD; PROTEIN EXPRESSION; RARE DISEASE; RASH; STEROID THERAPY; THROMBOCYTE; THROMBOCYTE ACTIVATION; THROMBOCYTE COUNT; THROMBOCYTE FUNCTION; THROMBOCYTE VOLUME; TREATMENT DURATION; TREATMENT RESPONSE; EXOME; GENETICS; INFANT; NUCLEOTIDE SEQUENCE; PEDIGREE; RECESSIVE GENE; THROMBOCYTOPENIA;

MUS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HUMANS; INFANT; IRAQ; MALE; PEDIGREE; THROMBOCYTOPENIA;

EID: 84923933126     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-014-0135-0     Document Type: Article

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