A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.
Masoud Dehghan Tezerjani(Shahid Sadoughi University of Medical Sciences and Health Services), Mohammadreza Dehghani(Shahid Sadoughi University of Medical Sciences and Health Services), Mahmoud Nori-Shadkam(Shahid Sadoughi University of Medical Sciences and Health Services), Seyed Mehdi Kalantar(Shahid Sadoughi University of Medical Sciences and Health Services), Andrew H. Crosby(University of Exeter), Barry A. Chioza(University of Exeter), Reza Maroofian(University College London), Mohammad Yahya Vahidi Mehrjardi(Shahid Sadoughi University of Medical Sciences and Health Services), Hamidreza Ghadimi(Tehran University of Medical Sciences), Emma L. Baple(University of Exeter), Shiva Zamaninejad(Golestan University)
PubMed
October 1, 2016
Cited by 6
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