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

L. Hudgins, G. Foskett,A. Hanson-Kahn, P. Kuu, J. Teng,K. Choate

AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2019)

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