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Combined cyclic vomiting and Kearns-Sayre syndromes.
Boles RG, Baldwin EE, Prezant TR. Boles RG, et al. Among authors: baldwin ee. Pediatr Neurol. 2007 Feb;36(2):135-6. doi: 10.1016/j.pediatrneurol.2006.09.008. Pediatr Neurol. 2007. PMID: 17275670
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ. Wong LJ, et al. Among authors: baldwin ee. Hepatology. 2007 Oct;46(4):1218-27. doi: 10.1002/hep.21799. Hepatology. 2007. PMID: 17694548
L1CAM whole gene deletion in a child with L1 syndrome.
Chidsey BA, Baldwin EE, Toydemir R, Ahles L, Hanson H, Stevenson DA. Chidsey BA, et al. Among authors: baldwin ee. Am J Med Genet A. 2014 Jun;164A(6):1555-8. doi: 10.1002/ajmg.a.36474. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668863
337 results