Coronal craniosynostosis and radial ray hypoplasia: A third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia

European Journal of Medical Genetics

Volumn 55, Issue 12, 2012, Pages 719-722

  Piard, Juliette ^a   Collet, Corinne ^b   Arbez Gindre, Francine ^a   Nirhy Lanto, Andriamisandrata ^c   Van Maldergem, Lionel ^a  

^a UNIVERSITY HOSPITAL OF BESANÇON   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

^c Centre Hospitalier Intercommunal de la Haute Saone   (France)

Author keywords

Baller Gerold syndrome; Diaphragmatic hernia; Saethre Chotzen syndrome; TWIST mutation

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3; TRANSCRIPTION FACTOR TWIST;

ACROCEPHALOSYNDACTYLY; ADULT; ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL BLINDNESS; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; DIAPHRAGM HERNIA; FACE ASYMMETRY; FEMALE; FETUS; GENE SEQUENCE; GENETIC DISORDER; HUMAN; HYPERTELORISM; HYPOPLASIA; MALE; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; NUCHAL TRANSLUCENCY MEASUREMENT; PHENOTYPE; PREGNANCY TERMINATION; PRIMIGRAVIDA; PTOSIS; RADIAL RAY HYPOPLASIA; RETINA MALFORMATION; SEX DIFFERENTIATION DISORDER; SKULL MALFORMATION; THREE DIMENSIONAL IMAGING;

ABNORMALITIES, MULTIPLE; ADULT; CRANIOSYNOSTOSES; FEMALE; FETUS; HERNIA, DIAPHRAGMATIC; HUMANS; MUTATION; PEDIGREE; PHENOTYPE; PREGNANCY; SYNDROME; TWIST TRANSCRIPTION FACTOR;

EID: 84869885676     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.08.007     Document Type: Article

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