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Galactosialidosis
Relevant markers:
HydropsHepatomegalySplenomegalyEpiphyseal calcifications
Involved genes:
(gene — definition — chromosome)CTSA — CATHEPSIN A — 20q13.12 Inheritance mode: AR Other online databases: OMIM References: 2017 J Inherit Metab Dis Review Read on PubMed Login for more details.