An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder)

被引：32

作者：

Sanal, O ^{[1
]}

Yel, L

Kucukali, T

Gilbert-Barnes, E

Tardieu, M

Tezcan, I

Ersoy, F

Metin, A

de Saint Basile, G

机构：

[1] Hacettepe Univ, Ihsan Dogramaei Childrens Hosp, Div Immunol, TR-06100 Ankara, Turkey

[2] Univ Calif Irvine, Dept Med, Div Basic & Clin Immunol, Irvine, CA 92697 USA

[3] Hacettepe Univ, Sch Med, Dept Pathol, Ankara, Turkey

[4] Univ S Florida, Tampa Gen Healthcare, Tampa, FL USA

[5] Hop Bicetre, Dept Pediat Neurol, F-94275 Le Kremlin Bicetre, France

[6] Hop Necker Enfants Malad, INSERM, U429, F-75015 Paris, France

来源：

JOURNAL OF NEUROLOGY | 2000年 / 247卷 / 07期

关键词：

D O I：

10.1007/s004150070162

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：570 / 572

页数：3

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