Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign
Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly. With decreased iduronate-2-sulfatase activity and hemizygous mutation in the ID...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2021-06-01
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| Series: | Journal of Pediatric Research |
| Subjects: | |
| Online Access: |
http://jpedres.org/archives/archive-detail/article-preview/mucopolysaccharidosis-type--with-pathognomonic-ski/47459
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