Cargando…
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...
Autores principales: | , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
|
Materias: | |
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 |