Cargando…
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...
Autores principales: | 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: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Tehran University of Medical Sciences
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149501/ https://www.ncbi.nlm.nih.gov/pubmed/27957444 |
Ejemplares similares
-
Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22- A Case Report
por: VAHIDI MEHRJARDI, Mohammad Yahya, et al.
Publicado: (2016) -
A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families
por: Dehghani, Mohammadreza, et al.
Publicado: (2017) -
A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)
por: Dehghan Tezerjani, Masoud, et al.
Publicado: (2020) -
Molecular biomarkers in diabetes mellitus (DM)
por: Aghaei Zarch, Seyed Mohsen, et al.
Publicado: (2020) -
Circulating miR-15a and miR-222 as Potential Biomarkers of Type 2 Diabetes
por: Sadeghzadeh, Salman, et al.
Publicado: (2020)