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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Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Tehran University of Medical Sciences 2016
Ábhair:
Case Report
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5149501/
https://ncbi.nlm.nih.gov/pubmed/27957444
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