%0 Journal Article
%T Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene
%A Chahnez Triki
%A Emna Bahloul
%A Faiza Fakhfakh
%A Hamida Turki
%A Houda Ben Othman
%A Kawthar Aloulou
%A Leila Keskes
%A Lobna Trabelsi
%A Nacim Louhichi
%A Nadia Mahfouth
%A Slaheddine Marrakchi
%A Zeineb Ayadi-Mnif
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2019
%R 10.1186/s13023-019-1095-4
%X The online version of this article (10.1186/s13023-019-1095-4) contains supplementary material, which is available to authorized users
%K Hypothyroidism
%K CDS
%K C.773(£¿£¿1)G£¿>£¿A mutation
%K ABHD5 gene
%K Splice site
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6529994/