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
BMC MEDICAL GENOMICS(2024)
关键词
ARL2BP,Syndromic rod-cone dystrophy,Renal agenesis,Cryptorchidism
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