Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome
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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Mashhad University of Medical Sciences
2018-05-01
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| Series: | Iranian Journal of Neonatology |
| Subjects: | |
| Online Access: | http://ijn.mums.ac.ir/article_10871_5d7150c4a329b349c270ba0cd2b46f72.pdf |