Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5
Background: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and cautious investigation. Case Presentation: In this paper, we report two siblings who were admitted to our clinic with various symptoms. The older one, a 13-year old boy, pre...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2020-06-01
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| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=82410 |