Hinson, J. Travis; Fantin, Valeria R.; Schönberger, Jost; Breivik, Noralv; Siem, Geir; McDonough, Barbara; Sharma, Pankaj; Keogh, Ivan; Godinho, Ricardo; Santos, Felipe; Esparza, Alfonso; Nicolau, Yamileth; Selvaag, Edgar; Cohen, Bruce H.; Hoppel, Charles L.; Tranebjærg, Lisbeth; Eavey, Roland D.; Seidman, J.G.; Seidman, Christine E. (22 February 2007). "Missense Mutations in the BCS1L Gene as a Cause of the Björnstad Syndrome". New England Journal of Medicine. 356 (8): 809–819. doi:10.1056/NEJMoa055262. ISSN0028-4793. PMID17314340.
Hinson, J. Travis; Fantin, Valeria R.; Schönberger, Jost; Breivik, Noralv; Siem, Geir; McDonough, Barbara; Sharma, Pankaj; Keogh, Ivan; Godinho, Ricardo; Santos, Felipe; Esparza, Alfonso; Nicolau, Yamileth; Selvaag, Edgar; Cohen, Bruce H.; Hoppel, Charles L.; Tranebjærg, Lisbeth; Eavey, Roland D.; Seidman, J.G.; Seidman, Christine E. (22 February 2007). "Missense Mutations in the BCS1L Gene as a Cause of the Björnstad Syndrome". New England Journal of Medicine. 356 (8): 809–819. doi:10.1056/NEJMoa055262. ISSN0028-4793. PMID17314340.
"Björnstad Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-04-27.
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Hinson, J. Travis; Fantin, Valeria R.; Schönberger, Jost; Breivik, Noralv; Siem, Geir; McDonough, Barbara; Sharma, Pankaj; Keogh, Ivan; Godinho, Ricardo; Santos, Felipe; Esparza, Alfonso; Nicolau, Yamileth; Selvaag, Edgar; Cohen, Bruce H.; Hoppel, Charles L.; Tranebjærg, Lisbeth; Eavey, Roland D.; Seidman, J.G.; Seidman, Christine E. (22 February 2007). "Missense Mutations in the BCS1L Gene as a Cause of the Björnstad Syndrome". New England Journal of Medicine. 356 (8): 809–819. doi:10.1056/NEJMoa055262. ISSN0028-4793. PMID17314340.