Associated Papers
A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts.
Placidi G et al.
Bmc Medical Genomics, 2024
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient.
Zhu T et al.
Clinical Genetics, 2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 2023
36909829 (PubMed )
Supplement: pgad043_supplementary_data.zip › PNASNEXUS-PNASNEXUS-2022-00861-s02.xlsx › Table
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.
Moye AR et al.
Plos Genetics, 2019
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