Biallelic Null Variants in C19orf44 Cause a Unique Late-Onset Retinal Dystrophy Phenotype Characterized by Patchy Perifoveal Chorioretinal Atrophy.
Miriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, Abigail R Moye,Riccardo Sangermano,Leah Rizel, Tahleel Ali-Nasser,Ifat Sher,David Gurwitz, Katherine R Chao, Antonio Rivera,Andrew R Webster,Carlo Rivolta,Hadas Newman,Eran Pras,Ygal Rotenstreich,Eyal Banin,Eric A Pierce,Dinah Zur,Gavin Arno,Kinga M Bujakowska,Siying Lin,Dror Sharon, Tamar Ben-Yosef Genetics in medicine official journal of the American College of Medical Genetics（2025）
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