- Gracile Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L - 2002 paper by Visapää et al.
- Molecular Genetics of The Gracile Syndrome - Very detailed information in the form of a dissertation by Ilona Visapää. [PDF]
- Online Mendelian Inheritance in Man - Details the state of knowledge of the genetics of Gracile Syndrome.