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

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 always p...

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Detalles Bibliográficos
Autores principales:	Aoyama, Ken-ichi, Kimura, Minoru, Yamazaki, Hiroshi, Uchibori, Masahiro, Kojima, Rena, Osawa, Yuko, Hosomichi, Kazuyoshi, Ota, Yoshihide, Tanaka, Masayuki, Yamada, Shiro, Nishimura, Gen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636042/ https://www.ncbi.nlm.nih.gov/pubmed/31311520 http://dx.doi.org/10.1186/s12881-019-0858-z

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