Journal Basic Info

  • Impact Factor: 0.285**
  • H-Index: 6
  • ISSN: 2638-4558
  • DOI: 10.25107/2638-4558
**Impact Factor calculated based on Google Scholar Citations. Please contact us for any more details.

Major Scope

  •  Molecular Biology
  •  Family Medicine and Public Health
  •  Genetics
  •  Breast Neoplasms
  •  Geriatric Medicine
  •  Hypertension
  •  Physiology
  •  Gastroenterology

Abstract

Citation: Clin Case Rep Int. 2022;6(1):1298.DOI: 10.25107/2638-4558.1298

Homozygous Mutation of OCLN Gene Result in Pseudo- TORCH Syndrome Type I: A Case Reports and Literature Review

Naznin Akter and Iffatara Shamsad

Department of Pediatric Neurology, Dhaka Medical College, Bangladesh
Department of Pediatrics, Dhaka Medical College, Bangladesh

*Correspondance to: Naznin Akter 

 PDF  Full Text Case Study | Open Access

Abstract:

Clinical similarities of TORCH syndrome but serological negative findings for infectious agent named it Psuedo-TORCH syndrome, which follows autosomal recessive inheritance but it has genetic heterogeneity. Here we reported a case of 11 month old girl of consanguineous parent with psychomotor retardation, microcephaly and intracranial calcifications but she was serologically negative for TORCH infection and positive for homozygous mutation in the gene encoding occluding (OCLN) on chromosome 5.

Keywords:

Cite the Article:

Akter N, Shamsad I. Homozygous Mutation of OCLN Gene Result in Pseudo-TORCH Syndrome Type I: A Case Reports and Literature Review. Clin Case Rep Int. 2022; 6: 1298.

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