Literature DB >> 12119218

The Peters' plus syndrome: a review.

Liesbeth J J M Maillette de Buy Wenniger-Prick1, Raoul C M Hennekam.   

Abstract

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. Major symptoms are extremely variable anterior chamber anomalies, cupid bow of the upper lip, cleft lip and palate, short stature, broad hands and feet, and variable mental delay. The syndrome follows an autosomal recessive pattern of inheritance. The etiology is unknown, but may involve abnormal neural crest development. A review of the pertinent literature is provided.

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Year:  2002        PMID: 12119218     DOI: 10.1016/s0003-3995(02)01120-6

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  23 in total

1.  Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Authors:  E Weh; L M Reis; R C Tyler; D Bick; W J Rhead; S Wallace; T L McGregor; S K Dills; M-C Chao; J C Murray; E V Semina
Journal:  Clin Genet       Date:  2013-09-17       Impact factor: 4.438

Review 2.  Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Authors:  Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell
Journal:  Circulation       Date:  2018-11-20       Impact factor: 29.690

3.  Mutation analysis of B3GALTL in Peters Plus syndrome.

Authors:  Linda M Reis; Rebecca C Tyler; Omar Abdul-Rahman; Pamela Trapane; Robert Wallerstein; Diane Broome; Jodi Hoffman; Aneal Khan; Christina Paradiso; Nitin Ron; Amanda Bergner; Elena V Semina
Journal:  Am J Med Genet A       Date:  2008-10-15       Impact factor: 2.802

Review 4.  Genetics of anterior segment dysgenesis disorders.

Authors:  Linda M Reis; Elena V Semina
Journal:  Curr Opin Ophthalmol       Date:  2011-09       Impact factor: 3.761

5.  Whole exome sequence analysis of Peters anomaly.

Authors:  Eric Weh; Linda M Reis; Hannah C Happ; Alex V Levin; Patricia G Wheeler; Karen L David; Erin Carney; Brad Angle; Natalie Hauser; Elena V Semina
Journal:  Hum Genet       Date:  2014-09-03       Impact factor: 4.132

6.  Genome-wide association analyses identify new loci influencing intraocular pressure.

Authors:  X Raymond Gao; Hua Huang; Drew R Nannini; Fangda Fan; Heejin Kim
Journal:  Hum Mol Genet       Date:  2018-06-15       Impact factor: 6.150

7.  ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.

Authors:  Bernadette C Holdener; Christopher J Percival; Richard C Grady; Daniel C Cameron; Steven J Berardinelli; Ao Zhang; Sanjiv Neupane; Megumi Takeuchi; Javier C Jimenez-Vega; Sardar M Z Uddin; David E Komatsu; Robert Honkanen; Johanne Dubail; Suneel S Apte; Takashi Sato; Hisashi Narimatsu; Steve A McClain; Robert S Haltiwanger
Journal:  Hum Mol Genet       Date:  2019-12-15       Impact factor: 6.150

Review 8.  Role of unusual O-glycans in intercellular signaling.

Authors:  Kelvin B Luther; Robert S Haltiwanger
Journal:  Int J Biochem Cell Biol       Date:  2008-10-08       Impact factor: 5.085

9.  Anterior segment dysgenesis in a child with factor VII deficiency.

Authors:  Francis Beby; Sandrine Meunier; Pierre Cochat; Olivier Roche; Florent Aptel; Carole Burillon; Philippe Denis
Journal:  Clin Ophthalmol       Date:  2007-09

10.  A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.

Authors:  Chad R Haldeman-Englert; Taiyabah Naeem; Elizabeth A Geiger; Ashley Warnock; Holly Feret; Melissa Ciano; Stefanie L Davidson; Matthew A Deardorff; Elaine H Zackai; Tamim H Shaikh
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

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