A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits. Furthermore, central nervous system (CNS) abnormalities can also be part of this developmental disorder. At least 13 forms of OFDS based on their p...

Descripción completa

Detalles Bibliográficos
Autores principales: DEHGHAN TEZERJANI, Masoud, MAROOFIAN, Reza, VAHIDI MEHRJARDI, Mohammad Yahya, CHIOZA, Barry A., ZAMANINEJAD, Shiva, KALANTAR, Seyed Mehdi, NORI-SHADKAM, Mahmoud, GHADIMI, Hamidreza, BAPLE, Emma L., CROSBY, Andrew H., DEHGHANI, Mohammadreza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149501/
https://www.ncbi.nlm.nih.gov/pubmed/27957444

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149501/
https://www.ncbi.nlm.nih.gov/pubmed/27957444

Ejemplares similares