Deletion of the TWIST gene in a large five-generation family

Clinical Genetics

Volumn 65, Issue 5, 2004, Pages 396-399

  De Heer, I M ^a   Hoogenboom, A J M ^a   Eussen, H J ^a   Vaandrager, J M ^a   De Klein, A ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Blepharophimosis; Cranio synostosis; Saethre Chotzen syndrome; TWIST

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TWIST; UNCLASSIFIED DRUG;

ACROCEPHALOSYNDACTYLY; ARTICLE; BLEPHAROPHIMOSIS; CHROMOSOME 7P; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; EYELID DISEASE; FACE MALFORMATION; FAMILY STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCUS; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LIMB MALFORMATION; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PTOSIS;

ACROCEPHALOSYNDACTYLIA; EAR; EYE ABNORMALITIES; FAMILY CHARACTERISTICS; GENE DELETION; HUMANS; KARYOTYPING; NUCLEAR PROTEINS; PEDIGREE; TRANSCRIPTION FACTORS; TWIST TRANSCRIPTION FACTOR;

EID: 2442666462     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0009-9163.2004.00244.x     Document Type: Article

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