The congenital vomer defect (CVD) is a rare and still partially unknown condition. Only few cases have been reported in the international literature and the large majority of them appeared to be isolated. We report a case of CVD detected in a 7-year-old girl affected by ectodermal dysplasia clefting syndrome caused by a mutation of the TP63 gene.
Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27) / A. Schindler, L. Guazzarotti, C. Mameli, E. Urbani, F. Mozzanica, L.F. Guerrini, G.V. Zuccotti. - In: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. - ISSN 0165-5876. - 77:9(2013 Sep), pp. 1606-1608. [10.1016/j.ijporl.2013.06.027]
Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27)
A. SchindlerPrimo
;C. Mameli;F. Mozzanica
;L.F. GuerriniPenultimo
;G.V. ZuccottiUltimo
2013
Abstract
The congenital vomer defect (CVD) is a rare and still partially unknown condition. Only few cases have been reported in the international literature and the large majority of them appeared to be isolated. We report a case of CVD detected in a 7-year-old girl affected by ectodermal dysplasia clefting syndrome caused by a mutation of the TP63 gene.
| File | Dimensione | Formato | |
|---|---|---|---|
|
schindler.pdf
accesso riservato
Tipologia:
Publisher's version/PDF
Dimensione
910.25 kB
Formato
Adobe PDF
|
910.25 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
