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- 2019
Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 geneDOI: 10.1186/s13023-019-1095-4 Keywords: Hypothyroidism, CDS, C.773(??1)G?>?A mutation, ABHD5 gene, Splice site Abstract: The online version of this article (10.1186/s13023-019-1095-4) contains supplementary material, which is available to authorized users
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