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Article

The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.

International journal of molecular sciences - 2 Jul 2022

Krašovec Tjaša, Volk Marija, Šuštar Habjan Maja, Hawlina Marko, Vidović Valentinčič Nataša, Fakin Ana

Abstract excerpt

Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene (DRAM2) cause a rare autosomal recessive retinal dystrophy and its disease course is not well understood. We present two Slovenian patients harboring a novel DRAM2 variant and a detailed review of all 23 other patients described to date. Whole exome and whole genome sequencing were performed in the two patients, and both underwent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35806404
DOI: 10.3390/ijms23137398
PMCID: PMC9266529

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