Gracile Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L
   2002 paper by Visapää et al.
   http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=378542

Molecular Genetics of The Gracile Syndrome
   Very detailed information in the form of a dissertation by Ilona Visapää.
   http://www.ktl.fi/attachments/suomi/julkaisut/julkaisusarja_a/2002a28.pdf

Online Mendelian Inheritance in Man
   Details the state of knowledge of the genetics of Gracile Syndrome.
   http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603358