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Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.
J Hum Genet. 2018 Jan;63(1):97-100. doi: 10.1038/s10038-017-0358-y. Epub 2017 Nov 16.
J Hum Genet. 2018.
PMID: 29215096
Clinical Trial.
Frontorhiny is one of the two forms of mid-facial malformations characterized by ocular hypertelorism, wide and short nasal ridge, bifid nasal tip, broad columella, widely separated nares, long and wide philtrum and V-shaped hairline. ...
Frontorhiny is one of the two forms of mid-facial malformations characterized by ocular hypertelorism, wide and short nasal ridge, bifid …
Endodontic management in oculo-facio-cardio-dental syndrome: a case report.
Pace R, Giuliani V, Pagavino G.
Pace R, et al.
J Endod. 2011 Apr;37(4):558-61. doi: 10.1016/j.joen.2010.12.015.
J Endod. 2011.
PMID: 21419309
OFCD syndrome is characterized by congenital cataract with secondary glaucoma ocular defects; ventricular and atrial septal defects or mitral valve prolapses; facial traits such as a long narrow face, a high nasal bridge, a bifid nasal tip; and dental anomali …
OFCD syndrome is characterized by congenital cataract with secondary glaucoma ocular defects; ventricular and atrial septal defects or mitra …
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