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

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, dermatologic...

Source: BMC Medical Genetics - July 16, 2019 Category: Genetics & Stem Cells Authors: Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada and Gen Nishimura Tags: Case report Source Type: research