Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay
Background. Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency. Case. Here we report two Turkish...
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| Main Authors: | Mina Hızal, Batuhan Yeke, Yılmaz Yıldız, Ali Öztürk, Berrak Bilginer Gürbüz, Turgay Coşkun |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2020-06-01
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| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/468 |
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