Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.

doi:10.1016/j.gim.2024.101081

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Article

Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2024

Zeitz Christina, Navarro Julien, Azizzadeh Pormehr Leila, Méjécase Cécile, Neves Luiza M, Letellier Camille, Condroyer Christel, Albadri Shahad, Amprou Andréa, Antonio Aline, Ben-Yacoub Tasnim, Wohlschlegel Juliette, Andrieu Camille, Serafini Malo, Bianco Lorenzo, Antropoli Alessio, Nassisi Marco, El Shamieh Said, Chantot-Bastaraud Sandra, Mohand-Saïd Saddek, Smirnov Vasily, Sahel José-Alain, Del Bene Filippo, Audo Isabelle

Abstract excerpt

PURPOSE: Progressive inherited retinal degenerations (IRDs) affecting rods and cones are clinically and genetically heterogeneous and can lead to blindness with limited therapeutic options. The major gene defects have been identified in subjects of European and Asian descent with only few reports of North African descent. METHODS: Genome, targeted next-generation, and Sanger sequencing was applied to cohort of...

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PMID: 38293907
DOI: 10.1016/j.gim.2024.101081

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