New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report

New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report

Abstract Background Osteodysplasia of the oral and maxillofacial bone is generally accompanied by systemic bone abnormalities (such as short stature, joint contracture) or other systemic abnormalities (such as renal, dermatological, cardiovascular, optic, or hearing disorders). However, it does not...

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Bibliographic Details
Main Authors: Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada, Gen Nishimura
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Medical Genetics
Subjects:
Local osteodysplasia
Oral and maxillofacial bones
PCNT
Pericentrin
Whole exome sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-019-0858-z

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http://link.springer.com/article/10.1186/s12881-019-0858-z

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