| Abstrakt: |
A case report from Xi'an Jiaotong University in China discusses a patient with Hoyeraal-Hreidarrson syndrome (HHS), a severe form of dyskeratosis congenita (DC), which is a telomere-related disease. The patient exhibited growth delay, bone marrow failure, microcephaly, defects in body development, and the absence of cerebellar hypoplasia combined with Blake's pouch cyst. Exome sequencing revealed compound heterozygous mutations in the RTEL1 gene, which is involved in genome stability, DNA replication, telomere maintenance, and genome repair. The study concludes that these mutations in RTEL1 cause HHS. This research has been peer-reviewed and published in The Turkish Journal of Pediatrics. [Extracted from the article] |
