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

• Main Authors: Giorgio Placidi (Author), Elena D'Agostino (Author), Paolo Enrico Maltese (Author), Maria Cristina Savastano (Author), Gloria Gambini (Author), Stanislao Rizzo (Author), Gabriele Bonetti (Author), Matteo Bertelli (Author), Pietro Chiurazzi (Author), Benedetto Falsini (Author)
• Format: Book
• Published: BMC, 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifes...