Literature DB >> 20537070

Bloom syndrome in two siblings.

Sheikh Javeed Sultan1, Sheikh Tariq Sultan.   

Abstract

Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectasias and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. We are reporting Bloom syndrome in two brothers from Kashmir (India), 8 and 6 years of age, who presented with erythematous rashes on the face, photosensitivity, and growth retardation.

Entities:  

Mesh:

Year:  2010        PMID: 20537070     DOI: 10.1111/j.1525-1470.2010.01101.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  1 in total

1.  Exome Sequencing in a Family Identifies RECQL5 Mutation Resulting in Early Myocardial Infarction.

Authors:  Xiang Xie; Ying-Ying Zheng; Dilare Adi; Yi-Ning Yang; Yi-Tong Ma; Xiao-Mei Li; Zhen-Yan Fu; Xiang Ma; Fen Liu; Zi-Xiang Yu; You Chen; Ying Huang
Journal:  Medicine (Baltimore)       Date:  2016-02       Impact factor: 1.889

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.