An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder).
(Q51973915)
scientific article published in July 2000
scientific article published in July 2000
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| description | scientific article published in July 2000 |
External Links
| (P356) |
10.1007/S004150070162
|
| (P698) |
10993506
|