Mucolipidosis IV: Report of a Case with Ocular Restricted Phenotype Caused by Leaky Splice Mutation
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference46 articles.
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2. Mucolipidosis type IV: a mild form with late onset;Reis;Am J Med Genet,1993
3. Mucolipidosis type IV: clinical manifestations and natural history;Chitayat;Am J Med Genet,1991
4. Constitutive achlorhydria in mucolipidosis type IV;Schiffmann;Proc Natl Acad Sci U S A,1998
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4. The High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV;Journal of Pediatric Ophthalmology & Strabismus;2022-09
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