A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dys...
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
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England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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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 manifestations due to ARL2BP variants. The detailed, long-term follow-up cont...
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Full title
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
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TN_cdi_doaj_primary_oai_doaj_org_article_1af6536faa4e4fd2b67af9635c62c787
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1af6536faa4e4fd2b67af9635c62c787
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ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-024-01868-w
