A novel variant in the ALDH3A2 gene causative of Sjögren–Larsson syndrome evaluated in silico aids in proper genetic counseling and planning management

A novel variant in the ALDH3A2 gene causative of Sjögren–Larsson syndrome evaluated in silico aids in proper genetic counseling and planning management

Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder caused by mutations in the ALDH3A2 gene, resulting in a deficiency of the enzyme fatty aldehyde dehydrogenase (FALDH). This study presents the findings of a case involving an 18-month-old female child with congenital ichthyo...

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Main Authors: Ishwarya Chandrashekar Thirugnanam, Vigneshwaran Gurunadan, Srikanth Jilla, Sreelatha Komandur, Qurratulain Hasan
Format: Article
Language:English
Published: Academia.edu Journals 2025-05-01
Series:Academia Molecular Biology and Genomics
Online Access:https://www.academia.edu/129472625/A_novel_variant_in_the_ALDH3A2_gene_causative_of_Sj%C3%B6gren_Larsson_syndrome_evaluated_in_silico_aids_in_proper_genetic_counseling_and_planning_management
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https://www.academia.edu/129472625/A_novel_variant_in_the_ALDH3A2_gene_causative_of_Sj%C3%B6gren_Larsson_syndrome_evaluated_in_silico_aids_in_proper_genetic_counseling_and_planning_management

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