Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay

American Journal of Medical Genetics, Part A

Volumn 167, Issue 11, 2015, Pages 2822-2825

  Takenouchi, Toshiki ^a   Kosaki, Rika ^b   Niizuma, Takahiro ^c   Hata, Kenichiro ^b   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c Tokyo Rinkai Hospital   (Japan)

Author keywords

CDC42; Cytoskeleton; Developmental delay; Exome sequencing; Thrombocytopenia; Wiskott Aldrich syndrome

Indexed keywords

PROTEIN CDC42;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME 21Q; CHROMOSOME DELETION; CYTOSKELETON; DEVELOPMENTAL DISORDER; EXOME; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HUMAN; JACOBSEN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; THROMBOCYTOPENIA; ADOLESCENT; BLOOD; CHILD; COMPLICATION; FACIES; GENETICS; INFANT; MUTATION; NEWBORN; PRESCHOOL CHILD;

ADOLESCENT; CDC42 GTP-BINDING PROTEIN; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FACIES; FEMALE; GENETIC LOCI; HUMANS; INFANT; INFANT, NEWBORN; MUTATION; THROMBOCYTOPENIA;

EID: 84947023894     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37275     Document Type: Article

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