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Haploinsufficiency of BMP4 gene may be the underlying cause of Frias syndrome.
Martínez-Fernández ML, Bermejo-Sánchez E, Fernández B, MacDonald A, Fernández-Toral J, Martínez-Frías ML. Martínez-Fernández ML, et al. Am J Med Genet A. 2014 Feb;164A(2):338-45. doi: 10.1002/ajmg.a.36224. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311462 Review.
In 2005, we reported on a family as having Frias syndrome (OMIM: 609640), with four affected members displaying a pattern of congenital defects nearly identical to those observed in a mother and son described by Frias [Frias et al. (1975). ...This gene family …
In 2005, we reported on a family as having Frias syndrome (OMIM: 609640), with four affected members displaying a pattern of c …
G syndrome: a review of the literature and a case report.
Bershof JF, Guyuron B, Olsen MM. Bershof JF, et al. J Craniomaxillofac Surg. 1992 Jan;20(1):24-7. doi: 10.1016/s1010-5182(05)80192-1. J Craniomaxillofac Surg. 1992. PMID: 1564117 Review.
In 1969, Opitz et al. reported the first case of G Syndrome (Opitz-Frias Syndrome). They presented their clinical observations on 4 brothers from the 'G Family' who shared a constellation of findings with a generalised tendency to midline defects. ...
In 1969, Opitz et al. reported the first case of G Syndrome (Opitz-Frias Syndrome). They presented their clinical observati …
Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia.
Wilson GN, Oliver WJ. Wilson GN, et al. J Med Genet. 1988 Mar;25(3):157-63. doi: 10.1136/jmg.25.3.157. J Med Genet. 1988. PMID: 3351901 Free PMC article.
Three families including five subjects with the G or Opitz-Frias syndrome are added to 23 published cases who had dysphagia; characteristics of the two affected relatives were added to 19 well documented published reports. ...The variable expressivity and five cases …
Three families including five subjects with the G or Opitz-Frias syndrome are added to 23 published cases who had dysphagia; c …