Matches in DBpedia 2016-04 for { ?s ?p "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita. Being an X-linked disorder, HHS primarily affects males. Patients with HHS typically present in early childhood with cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth retardation. The primary cause of death in HHS is bone marrow failure, but mortality from cancer and pulmonary fibrosis is also significant."@en }
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- Hoyeraal-Hreidarsson_syndrome abstract "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita. Being an X-linked disorder, HHS primarily affects males. Patients with HHS typically present in early childhood with cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth retardation. The primary cause of death in HHS is bone marrow failure, but mortality from cancer and pulmonary fibrosis is also significant.".
- Q20707211 abstract "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita. Being an X-linked disorder, HHS primarily affects males. Patients with HHS typically present in early childhood with cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth retardation. The primary cause of death in HHS is bone marrow failure, but mortality from cancer and pulmonary fibrosis is also significant.".