RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy
Author:
Affiliation:
1. Greenwood Genetic Center Greenwood South Carolina USA
2. PerkinElmer Genomics Pittsburgh Pennsylvania USA
Abstract
Publisher
Wiley
Subject
General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.7165
Reference13 articles.
1. Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
2. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
3. Incontinetia pigmenti-related myopathy or unsolved “double trouble”?
4. Incontinentia pigmenti diagnostic criteria update
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