Document Detail


Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27).
MedLine Citation:
PMID:  23906991     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
A Schindler; L Guazzarotti; C Mameli; E Urbani; F Mozzanica; L Guerrini; G V Zuccotti
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-7-29
Journal Detail:
Title:  International journal of pediatric otorhinolaryngology     Volume:  -     ISSN:  1872-8464     ISO Abbreviation:  Int. J. Pediatr. Otorhinolaryngol.     Publication Date:  2013 Jul 
Date Detail:
Created Date:  2013-8-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8003603     Medline TA:  Int J Pediatr Otorhinolaryngol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.
Affiliation:
Phoniatric Unit, Department of Biomedical and Clinical Sciences L. Sacco, University of Milan, Milan, Italy.
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