Literature DB >> 6443615

Peters'-plus: a new syndrome.

M J van Schooneveld, J W Delleman, F A Beemer, E M Bleeker-Wagemakers.   

Abstract

The authors present 11 patients with Peters' anomaly, short stature, brachymorphy, mental retardation, abnormal ears and cheilo(gnatho)palatoschisis. The condition can be relatively mild, but also even lethal in the fetal period.

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Mesh：

Year:  1984        PMID： 6443615     DOI： 10.3109/13816818409006113

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN： 0167-6784


  11 in total

1.  Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous.

Authors:  A Matsubara; H Ozeki; N Matsunaga; M Nozaki; M Ashikari; S Shirai; Y Ogura
Journal:  Br J Ophthalmol       Date:  2001-12       Impact factor: 4.638

2.  Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

Authors:  J C de Almeida; D F Reis; J Llerena Júnior; J Barbosa Neto; R L Pontes; S Middleton; L F Telles
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

3.  Clinical utility gene card for: Peters plus syndrome.

Authors:  Jaak Jaeken; Dirk J Lefeber; Gert Matthijs
Journal:  Eur J Hum Genet       Date:  2016-04-06       Impact factor: 4.246

4.  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

5.  Transplantation of congenitally opaque corneas.

Authors:  B E Frueh; S I Brown
Journal:  Br J Ophthalmol       Date:  1997-12       Impact factor: 4.638

6.  Peters' anomaly - anaesthetic management.

Authors:  Senthilkumar M; Darlong V; Jyotsna Punj; Ravinder Pandey
Journal:  Indian J Anaesth       Date:  2009-08

7.  Peters plus syndrome.

Authors:  Seema Kapoor; Sharmila Banerjee Mukherjee; Ritu Arora; Daraius Shroff
Journal:  Indian J Pediatr       Date:  2008-08-31       Impact factor: 1.967

8.  Hydrocephalus in mouse B3glct mutants is likely caused by defects in multiple B3GLCT substrates in ependymal cells and subcommissural organ.

Authors:  Sanjiv Neupane; June Goto; Steven J Berardinelli; Atsuko Ito; Robert S Haltiwanger; Bernadette C Holdener
Journal:  Glycobiology       Date:  2021-09-09       Impact factor: 4.313

9.  An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene.

Authors:  Olfa Siala; Neila Belguith; Faiza Fakhfakh
Journal:  Iran J Pediatr       Date:  2013-08       Impact factor: 0.364

10.  Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.

Authors:  Ye Elaine Wang; Dhariana Acon Ramirez; Ta Chen Chang; Audina Berrocal
Journal:  BMC Ophthalmol       Date:  2020-03-23       Impact factor: 2.209
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