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Abnormal facial features in infant with mucolipidosis II
Abnormal facial features in a male infant with mucolipidosis II (I-cell disease) caused by compound heterozygous GNPTAB mutations include puffy eyelids, epicanthus, flat nasal bridge, anteverted nostrils, gingival hyperplasia, and macroglossia. (Source: He SJ, Li DJ, Lv WQ, et al. Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations. Front Pediatr 2023;11:1199489. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)