Orphanet Journal of Rare Diseases (2015) - Comments
pubmed: 26025012  doi: 10.1186/s13023-015-0282-1  issn: 1750-1172 

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Allison N. Bischoff, Angela M. Reiersen, Anna Buttlaire, Amal Al-Lozi, Tasha Doty, Bess A. Marshall, Tamara Hershey,