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...

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Detalhes bibliográficos
Publicado no:Iran J Public Health
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Tehran University of Medical Sciences 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5149501/
https://ncbi.nlm.nih.gov/pubmed/27957444
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