A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome

Cleft Palate-Craniofacial Journal

Volumn 43, Issue 2, 2006, Pages 152-154

  Shotelersuk, Vorasuk ^a   Siriwan, Pichit ^b   Ausavarat, Surasawadee ^a  

^a KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

^b CHULALONGKORN UNIVERSITY   (Thailand)

Author keywords

Craniofrontonasal syndrome; EFNB1; Ephrin B1; Mutation analysis

Indexed keywords

EPHRIN B1;

ADULT; ARTICLE; CASE REPORT; CRANIOFACIAL SYNOSTOSIS; CRANIOFRONTONASAL SYNDROME; DOMINANT INHERITANCE; EFNB1 GENE; EXON; FACE MALFORMATION; FEMALE; GENE; GENE CLUSTER; GENE INSERTION; GENE MUTATION; HUMAN; LIGAND BINDING; NOSE MALFORMATION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DETERMINATION; RECEPTOR BINDING; THAILAND; X CHROMOSOME LINKED DISORDER;

ADULT; CARRIER PROTEINS; CRANIOSYNOSTOSES; EPHRIN-B1; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; NOSE; POINT MUTATION; SYNDROME;

EID: 33644998510     PISSN: 10556656     EISSN: None     Source Type: Journal    
DOI: 10.1597/05-014.1     Document Type: Article

References (8)

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