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Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene

Nacim Louhichi, Emna Bahloul, Slaheddine Marrakchi, et al.
Orphanet Journal of Rare Diseases 14 (1) (2019)
DOI: 10.1186/s13023-019-1095-4
See this article