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

• Asıl Yazarlar: Mazen S Alzahrani1 (Yazar), Lynne M Bird2 (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Global Journal of Rare Diseases - Peertechz Publications, 2019-07-05.
• Konular: Case Report
• Online Erişim: 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...