Literature DB >> 1856836

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

J C de Almeida1, D F Reis, J Llerena Júnior, J Barbosa Neto, R L Pontes, S Middleton, L F Telles.   

Abstract

Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance.

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Year:  1991        PMID： 1856836      PMCID： PMC1016833          DOI： 10.1136/jmg.28.4.277

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  Peters' anomaly as a consequence of genetic and nongenetic syndromes.

Authors:  J D Kivlin; R M Fineman; A S Crandall; R J Olson
Journal:  Arch Ophthalmol       Date:  1986-01

2.  Peters'-plus: a new syndrome.

Authors:  M J van Schooneveld; J W Delleman; F A Beemer; E M Bleeker-Wagemakers
Journal:  Ophthalmic Paediatr Genet       Date:  1984-12

Review 3.  A child with sclerocornea, short limbs, short stature, and distinct facial appearance.

Authors:  E M Thompson; R M Winter
Journal:  Am J Med Genet       Date:  1988-07

4.  Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.

Authors:  H M Saal; R M Greenstein; P J Weinbaum; A E Poole
Journal:  Am J Med Genet       Date:  1988-07

Review 5.  Robinow syndrome: report of two patients and review of literature.

Authors:  M G Butler; W B Wadlington
Journal:  Clin Genet       Date:  1987-02       Impact factor: 4.438
  5 in total
  2 in total

1.  Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.

Authors:  Eric Weh; Hideyuki Takeuchi; Sanaa Muheisen; Robert S Haltiwanger; Elena V Semina
Journal:  PLoS One       Date:  2017-09-19       Impact factor: 3.240

Review 2.  Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.

Authors:  Daniel A Balikov; Adam Jacobson; Lev Prasov
Journal:  Genes (Basel)       Date:  2021-09-11       Impact factor: 4.096
  2 in total

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