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The Peters' plus syndrome: a review.
Maillette de Buy Wenniger-Prick LJ, Hennekam RC. Maillette de Buy Wenniger-Prick LJ, et al. Ann Genet. 2002 Apr-Jun;45(2):97-103. doi: 10.1016/s0003-3995(02)01120-6. Ann Genet. 2002. PMID: 12119218 Review.
Peters' plus syndrome is an infrequently described entity that combines anomalies in the anterior chamber of the eye with other multiple congenital anomalies, and a developmental delay. ...
Peters' plus syndrome is an infrequently described entity that combines anomalies in the anterior chamber of the eye wi
The Peters'-Plus syndrome: description of 16 patients and review of the literature.
Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, Seguin JH, Weatherstone KB, Wittebol-Post D, Meinecke P. Hennekam RC, et al. Clin Dysmorphol. 1993 Oct;2(4):283-300. Clin Dysmorphol. 1993. PMID: 7508316 Review.
Peters'-Plus syndrome is characterized by Peters' anomaly, a typical face, cleft lip and palate, short limb dwarfism, and developmental retardation. ...The spectrum of the syndrome is broadened by data from affected sibs which indicate that a wider range of a
Peters'-Plus syndrome is characterized by Peters' anomaly, a typical face, cleft lip and palate, short limb dwarfism, a
Ocular Phenotype of Peters-Plus Syndrome.
Shah PR, Chauhan B, Chu CT, Kofler J, Nischal KK. Shah PR, et al. Cornea. 2022 Feb 1;41(2):219-223. doi: 10.1097/ICO.0000000000002889. Cornea. 2022. PMID: 34629439 Review.
PURPOSE: Peters-plus syndrome is a rare, autosomal recessive congenital disorder of glycosylation caused by mutations in the gene B3GLCT. ...Where available, we describe the histology of host corneal buttons. METHODS: A retrospective chart review of patients …
PURPOSE: Peters-plus syndrome is a rare, autosomal recessive congenital disorder of glycosylation caused by mutations i …
Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats.
Heinonen TY, Maki M. Heinonen TY, et al. Ann Med. 2009;41(1):2-10. doi: 10.1080/07853890802301975. Ann Med. 2009. PMID: 18720094 Review.
Genetic defects in glycosyltransferases are responsible for a number of developmental defects and diseases known as congenital disorders of glycosylation (CDGs). Peters'-plus syndrome, a rare autosomal recessive disorder, is now known to be a CDG. ...Identifi …
Genetic defects in glycosyltransferases are responsible for a number of developmental defects and diseases known as congenital disorders of …
Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome.
Frydman M, Weinstock AL, Cohen HA, Savir H, Varsano I. Frydman M, et al. Am J Med Genet. 1991 Jul 1;40(1):34-40. doi: 10.1002/ajmg.1320400107. Am J Med Genet. 1991. PMID: 1887847 Review.
The condition is a distinct clinical entity for which we suggest the eponym Krause-Kivlin syndrome. Peters anomaly is thought to result from abnormal migration of neural crest cells. ...
The condition is a distinct clinical entity for which we suggest the eponym Krause-Kivlin syndrome. Peters anomaly is t …