Literature DB >> 21032328

Dwarfism with Retinal Atrophy and Deafness.

E A Cockayne.   

Abstract

Entities:  

Year:  1946        PMID： 21032328      PMCID： PMC1987981     

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  2 in total

1.  Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B.

Authors:  Rayanne Damaj-Fourcade; Nicolas Meyer; Cathy Obringer; Nicolas Le May; Nadège Calmels; Vincent Laugel
Journal:  Front Genet       Date:  2022-02-17       Impact factor: 4.599

2.  First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.

Authors:  Alain Chebly; Sandra Corbani; Joelle Abou Ghoch; Cybel Mehawej; André Megarbane; Eliane Chouery
Journal:  BMC Med Genet       Date:  2018-09-10       Impact factor: 2.103
  2 in total

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