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

• Main Authors: Masoud DEHGHAN TEZERJANI (Author), Reza MAROOFIAN (Author), Mohammad Yahya VAHIDI MEHRJARDI (Author), Barry A. CHIOZA (Author), Shiva ZAMANINEJAD (Author), Seyed Mehdi KALANTAR (Author), Mahmoud NORI-SHADKAM (Author), Hamidreza GHADIMI (Author), Emma L. BAPLE (Author), Andrew H. CROSBY (Author), Mohammadreza DEHGHANI (Author)
• Format: Book
• Published: Tehran University of Medical Sciences, 2016-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>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 o...