CONGENITAL ICHTHYOSIS AND CATARACTS REPRESENT A MILD PHENOTYPE OF CHANARIN-DORFMAN SYNDROME, A POTENTIALLY TREATABLE NEUTRAL LIPID STORAGE DISORDER

被引：0
|
作者：
Hudgins, L. [1 ]
Foskett, G. [1 ]
Hanson-Kahn, A. [1 ]
Kuu, P. [2 ]
Teng, J. [2 ]
Choate, K. [3 ]
机构：
[1] Stanford Univ, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA
[2] Stanford Univ, Dept Dermatol, Stanford, CA 94305 USA
[3] Yale Univ, Dept Dermatol, New Haven, CT 06520 USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2019年 / 179卷 / 04期
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中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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页码：737 / 737
页数：1
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