Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome

• Asıl Yazarlar: shahin mafinejad (Yazar), Hadi Khorsand Zak (Yazar), Ghasem Bayani (Yazar), Hojatollah Ehteshammanesh (Yazar), Yasaman Bozorgnia (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Mashhad University of Medical Sciences, 2018-05-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic...