OTX2 mutations contribute to the otocephaly-dysgnathia complex

Date
2012
Author
Encha-Razavi, Ferechte
Chassaing, Nicolas
Sorrentino, Susanna
Davis, Erica E.
Martin-Coignard, Dominique
Iacovelli, Anthony
Paznekas, William
Webb, Bryn D.
Faye-Petersen, Ona
Lequeux, Leopoldine
Vigouroux, Adeline
Yesilyurt, Ahmet
Boyadjiev, Simeon A.
Kayserili, Hulya
Loget, Philippe
Carles, Dominique
Sergi, Consolato
Puvabanditsin, Surasak
Chen, Chih-Ping
Etchevers, Heather C.
Katsanis, Nicholas
Mercer, Catherine L.
Calvas, Patrick
Jabs, Ethylin Wang
Metadata
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Abstract
Background Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is largely unknown in humans.
URI
http://hdl.handle.net/20.500.12627/35760
https://doi.org/10.1136/jmedgenet-2012-100892
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