Alazami syndrome in an Afghani girl: A case report and review of literature
<p><strong>Purpose</strong>: Alazami syndrome is a rare autosomal recessive disorder with core phenotypic manifestations of short stature, mild facial dysmorphism, and global developmental delay evolving to severe intellectual disability. Homozygous loss-of-function mutations in LA...
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| Egile Nagusiak: | , |
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| Formatua: | Liburua |
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Global Journal of Rare Diseases - Peertechz Publications,
2019-07-05.
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