scholarly journals Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis

2019 ◽  
Vol 94 (4) ◽  
pp. 487-489
Author(s):  
Denis Miyashiro ◽  
Luis Antonio Torezan ◽  
Beni Moreinas Grinblat ◽  
Cyro Festa Neto
2011 ◽  
Vol 37 (3) ◽  
pp. 311-313 ◽  
Author(s):  
J. Alonso-González ◽  
E. Gutiérrez-González ◽  
V. Fernández-Redondo ◽  
A. Vega-Gliemmo ◽  
J. Toribio

2011 ◽  
Vol 65 (1) ◽  
pp. e17-e19 ◽  
Author(s):  
Weston T. Waxweiler ◽  
Chris G. Adigun ◽  
Pam Groben ◽  
David S. Rubenstein

Author(s):  
Lucía T. Fernández ◽  
Sonia S. Ocampo‐Garza ◽  
Guillermo Elizondo‐Riojas ◽  
Jorge Ocampo‐Candiani

2009 ◽  
Vol 35 (12) ◽  
pp. 2051-2053 ◽  
Author(s):  
Klara Mosterd ◽  
Anja Sommer ◽  
Arienne van Marion ◽  
Martin Lacko ◽  
Jos Herbergs ◽  
...  

2019 ◽  
Vol 57 (2) ◽  
pp. 255-262
Author(s):  
Sayuri Inoue ◽  
Hiroshi Kurosaka ◽  
Donghoon Lee ◽  
Takashi Yamashiro

Basal cell nevus syndrome (BCNS) is a rare genetic disorder that can be caused by mutation of multiple genes, including PTCH1, PTCH2, and SUFU, in an autosomal dominant manner. The symptoms include some craniofacial features such as keratocystic odontogenic tumors (KCOTs), macrocephaly, and cleft lip and/or palate. Although comprehensive orthodontic treatment is frequently required for some of these craniofacial deformities, there are few reports that show the outcomes of comprehensive orthodontic treatment. Here, we report a case of BCNS with multiple KCOTs, macrocephaly, skeletal class III malocclusion, asymmetric dental arch, and mandibular crowding, which was successfully treated with comprehensive orthodontic treatment.


1995 ◽  
Vol 41 (12) ◽  
pp. 1092-1094
Author(s):  
Eiichirou SASAKI ◽  
Nobuyuki TANAKA ◽  
Koji KINO ◽  
Junji KOBAYASHI ◽  
Kenichi SHIONOYA ◽  
...  

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