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Abstract

April to June 2019 | Vol. 12 | Issue 2 | Page 04-05
Rare Type of Epidermolysis Bullosa Associated with the ITGB4 Gene: Journey with the Patient's Family
Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
Address for Correspondence Email: shubharaophadke@gmail.com
Abstract
Next generation sequencing (NGS) is a boon for patients with rare monogenic disorders and their physicians. Epidermolysis bullosa (EB) is a genetic disorder with genetic and phenotypic variability. This report discusses the case of a neonate with a rare type of EB caused by biallelic pathogenic variants in the ITGB4 gene and the long term follow up of the family as well as their reproductive decisions. Communication of the clinician with the laboratory on the one hand and with the patient's family on the other hand is necessary for the success of the diagnostic and genetic counseling process.
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