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Mucopolysaccharidosis type I (MPS I) is a rare disorder caused by deleterious sequence variants in the α‐L‐iduronidase (IDUA) gene. More than 200 pathogenic variants have been described so far, but their frequencies have not yet been analyzed on a worldwide scale. To address this, we analyzed the genotypes of MPS I patients from 35 published studies papers. The most common pathogenic variant observed...
Mucopolysaccharidosis type I is a rare autosomal recessive disorder caused by deficiency of α‐l‐iduronidase (IDUA) which leads to a wide spectrum of clinical severity. Here, we describe the case of four male patients who present the previously undescribed p.L18P mutation. Patient 1 (p.L18P/p.L18P) presents, despite multiple joint contractures, an attenuated phenotype. Patient 2 (p.L18P/p.W402X) was...
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