An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder). (Q51973915)
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scientific article published in July 2000
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder). |
scientific article published in July 2000 |
Statements
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An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder). (English)
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Sanal O
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Yel L
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Kucukali T
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Gilbert-Barnes E
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Tardieu M
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Texcan I
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Ersoy F
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Metin A
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de Saint Basile G
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1 July 2000
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247
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7
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570-572
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