Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
Manoli I, Golas G, Westbroek W, Vilboux T, Markello TC, Introne W, Maynard D, Pederson B, Tsilou E, Jordan MB, Hart PS, White JG, Gahl WA, Huizing M.
Manoli I, et al. Among authors: markello tc.
Am J Med Genet A. 2010 Jun;152A(6):1474-83. doi: 10.1002/ajmg.a.33389.
Am J Med Genet A. 2010.
PMID: 20503323
Free PMC article.