Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene

American Journal of Medical Genetics

Volumn 104, Issue 1, 2001, Pages 53-56

  Boeck, A ^a   Kosan, C ^b   Ciznar, P ^c   Kunz, J ^b  

^a UNIVERSITY OF VIENNA   (Austria)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

^c Slovak Postgraduate Academy of Med   (Slovakia)

Author keywords

Primary immunodeficiency; Saethre Chotzen syndrome; TWIST gene deletion

Indexed keywords

IMMUNOGLOBULIN E;

ACROCEPHALOSYNDACTYLY; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 11P; CHROMOSOME DELETION; CLINICAL FEATURE; CRANIOTOMY; GENE; HUMAN; HYPERIMMUNOGLOBULINEMIA E; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TWIST GENE;

ABNORMALITIES, MULTIPLE; ACROCEPHALOSYNDACTYLIA; ADULT; BASE SEQUENCE; CHILD; FEMALE; HUMANS; JOB'S SYNDROME; MALE; MUTATION; NUCLEAR PROTEINS; SEQUENCE DELETION; SYNDROME; TRANSCRIPTION FACTORS; TWIST TRANSCRIPTION FACTOR;

EID: 0035889370     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10007     Document Type: Article

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