Alazami syndrome in an Afghani girl: A case report and review of literature

• मुख्य लेखकों: Mazen S Alzahrani1 (लेखक), Lynne M Bird2 (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Global Journal of Rare Diseases - Peertechz Publications, 2019-07-05.
• विषय: Case Report
• ऑनलाइन पहुंच: Connect to this object online.

<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...