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

• Päätekijät: Ken-ichi Aoyama (Tekijä), Minoru Kimura (Tekijä), Hiroshi Yamazaki (Tekijä), Masahiro Uchibori (Tekijä), Rena Kojima (Tekijä), Yuko Osawa (Tekijä), Kazuyoshi Hosomichi (Tekijä), Yoshihide Ota (Tekijä), Masayuki Tanaka (Tekijä), Shiro Yamada (Tekijä), Gen Nishimura (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2019-07-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

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...