Otocephaly-dysgnathia complex: Description of four cases and confirmation of the role of OTX2

Molecular Syndromology

Volumn 4, Issue 6, 2013, Pages 302-305

  Patat, O ^a   Van Ravenswaaij Arts, C M A ^e   Tantau, J ^c,d   Corsten Janssen, N ^e   Van Tintelen, J P ^e   Dijkhuizen, T ^e   Kaplan, J ^c,d   Chassaing, N ^a,b  

^a CHU PURPAN   (France)

^b UNIVERSITÉ PAUL SABATIER   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d IMAGINE INSTITUTE   (France)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Agnathia; Microphthalmia; Otocephaly; OTX2; PRRX1

Indexed keywords

TRANSCRIPTION FACTOR OTX2;

AIRWAY OBSTRUCTION; AMNIOCENTESIS; ARTICLE; CAMPTODACTYLY; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHOANA ATRESIA; DISEASE ASSOCIATION; DISEASE SEVERITY; EAR MALFORMATION; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS KARYOTYPING; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HEAD CIRCUMFERENCE; HEREDITY; HISTOPATHOLOGY; HOLOPROSENCEPHALY; HUMAN; HYDRAMNIOS; MALE; MANDIBLE HYPOPLASIA; MICROGNATHIA; MICROPHTHALMIA; MICROSTOMIA; MOLECULAR GENETICS; MOUTH MALFORMATION; NEUROIMAGING; NEUROPATHOLOGY; NEWBORN; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OTOCEPHALY DYSGNATHIA COMPLEX; PHENOTYPE; PRIORITY JOURNAL; PRRX1 GENE; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; X RAY;

EID: 84883677704     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000353727     Document Type: Article

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