Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature

European Journal of Medical Genetics

Volumn 54, Issue 3, 2011, Pages 256-261

  Busche, Andreas ^a   Graul Neumann, Luitgard M ^b   Zweier, Christiane ^c   Rauch, Anita ^d   Klopocki, Eva ^b   Horn, Denise ^b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Blepharophimosis ptosis epicanthus inversus syndrome; Deletion 7p21; Saethre Chotzen syndrome; TWIST1

Indexed keywords

TRANSCRIPTION FACTOR TWIST;

ACROCEPHALOSYNDACTYLY; ADOLESCENT; ARTICLE; BLEPHAROPHIMOSIS; BODY HEIGHT; BRACHYDACTYLY; CASE REPORT; CHILD; CHROMOSOME 21P; CHROMOSOME 7P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MUTATION; CLEFT PALATE; CLINODACTYLY; CRANIOFACIAL SYNOSTOSIS; EXOPHTHALMOS; FACE DYSMORPHIA; FEMALE; GENE; GENETIC ASSOCIATION; HEMANGIOMA; HUMAN; HYPERTELORISM; HYPODONTIA; KARYOTYPING; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PALPEBRAL FISSURE; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; PTOSIS; SHORT STATURE; TELECANTHUS; TWIST1 GENE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; COMPARATIVE GENOMIC HYBRIDIZATION; FACE; FEMALE; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MICROCEPHALY; NUCLEAR PROTEINS; SYNDROME; TWIST TRANSCRIPTION FACTOR;

EID: 79955469068     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.02.002     Document Type: Article

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