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Journal of Ophthalmological Society of West Bengal
Article . 2025 . Peer-reviewed
License: CC BY NC ND
Data sources: Crossref
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Novel Unreported Variants in Alstrom Syndrome 1 Gene Causing Alstrom Syndrome

descriptionPublicationkeyboard_double_arrow_right Article 01 Jan 2025 English Publisher:Ovid Technologies (Wolters Kluwer Health)Journal:Journal of Ophthalmological Society of West Bengal, volume 2, pages 23-26 (issn: 3050-5313, eissn: 3050-5321, Copyright policy )
Authors: Sarang Nikhil Gokhale; Puja Chowdhury; Bhagyashree Verma; Aarzoo Juneja; Ahana Sen; Rupak Roy;

doi: 10.4103/josb.josb_7_25

Novel Unreported Variants in Alstrom Syndrome 1 Gene Causing Alstrom Syndrome

Abstract

Abstract We report a case of Alstrom Syndrome (ALMS) due to mutation in ALMS1 and EYS gene caused by an unreported variant. The case revealed a heterozygous variant c.3298del on exon8 and c.11250del on exon16 of the ALMS1 gene. It is a rare syndrome that has a variable presentation, and discovering new variants can help in better genotype–phenotype correlation. This understanding shall further help in avoiding misdiagnosis of ALMS with predominant ocular features.

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
hybrid