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

• मुख्य लेखकों: Masoud DEHGHAN TEZERJANI (लेखक), Reza MAROOFIAN (लेखक), Mohammad Yahya VAHIDI MEHRJARDI (लेखक), Barry A. CHIOZA (लेखक), Shiva ZAMANINEJAD (लेखक), Seyed Mehdi KALANTAR (लेखक), Mahmoud NORI-SHADKAM (लेखक), Hamidreza GHADIMI (लेखक), Emma L. BAPLE (लेखक), Andrew H. CROSBY (लेखक), Mohammadreza DEHGHANI (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Tehran University of Medical Sciences, 2016-10-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...