Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction
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DOI: 10.1007/s10633-021-09824-0
Abstract: To describe a case of a child with mild phenotype of Incontinentia Pigmenti (IP), with changes in Spectral-Domain Optical Coherence Tomography (SD-OCT) and Optical Coherence Tomography Angiography (OCT-A) and an electronegative dark-adapted (DA) 3.0 electroretinogram… read more here.
Keywords: child mild; inner retinal; child; phenotype incontinentia ... See more keywords
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
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DOI: 10.1212/nxg.0000000000000578
Abstract: Objective To describe the WFS1 c.1672C>T; p.R558C missense variant, found in 1.34% of Ashkenazi Jews, that has a relatively mild phenotype and to use computational normal mode analysis (NMA) to explain the genotype-phenotype relationship. Methods… read more here.
Keywords: variant; wolfram syndrome; mild phenotype; model wolframin ... See more keywords