| Literature DB >> 11170073 |
J Ivanovich1, S Mallory, T Storer, D Ciske, A Hing.
Abstract
Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome, is a rare syndrome characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. It is similar to the Chediak-Higashi and Griscelli syndromes, although these syndromes are associated with severe immunologic dysfunction. We report on a 12-year-old male with Elejalde syndrome and compare the Elejalde, Chediak-Higashi, and Griscelli syndromes. Copyright 2001 Wiley-Liss, Inc.Entities:
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Year: 2001 PMID: 11170073 DOI: 10.1002/1096-8628(20010201)98:4<313::aid-ajmg1098>3.0.co;2-p
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299