PMC:3591859 / 1482-2461
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/3591859","sourcedb":"PMC","sourceid":"3591859","source_url":"https://www.ncbi.nlm.nih.gov/pmc/3591859","text":"Dyskeratosis congenita (DC [MIM 305000]) is a complex bone-marrow (BM)-failure syndrome in which the principal pathology is defective telomere maintenance and is associated with short telomeres.1–3 Eight of the genes known to be mutated in DC are involved in telomere maintenance and account for the genetic basis of approximately 60% of DC cases.3–6 The classical presentation of DC includes abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. Individuals with DC frequently develop BM failure and are at a high risk of developing cancer, as well as a variety of other features.7 Hoyeraal-Hreidarsson syndrome (HHS [MIM 300240]) is a phenotypically severe DC variant that is characterized by a variety of features, including BM failure, intrauterine growth restriction, developmental delay, cerebellar hypoplasia, immunodeficiency,8 and usually short telomeres. Although the genetic basis of some cases of HHS has been elucidated, in many cases it remains unknown.","tracks":[{"project":"2_test","denotations":[{"id":"23453664-22285015-2049532","span":{"begin":196,"end":197},"obj":"22285015"},{"id":"23453664-21189492-2049532","span":{"begin":196,"end":197},"obj":"21189492"},{"id":"23453664-22160078-2049532","span":{"begin":196,"end":197},"obj":"22160078"},{"id":"23453664-22160078-2049533","span":{"begin":349,"end":350},"obj":"22160078"},{"id":"23453664-22532422-2049533","span":{"begin":349,"end":350},"obj":"22532422"},{"id":"23453664-17785587-2049533","span":{"begin":349,"end":350},"obj":"17785587"},{"id":"23453664-21745483-2049533","span":{"begin":349,"end":350},"obj":"21745483"},{"id":"23453664-16332973-2049534","span":{"begin":593,"end":594},"obj":"16332973"},{"id":"23453664-10583221-2049535","span":{"begin":846,"end":847},"obj":"10583221"}],"attributes":[{"subj":"23453664-22285015-2049532","pred":"source","obj":"2_test"},{"subj":"23453664-21189492-2049532","pred":"source","obj":"2_test"},{"subj":"23453664-22160078-2049532","pred":"source","obj":"2_test"},{"subj":"23453664-22160078-2049533","pred":"source","obj":"2_test"},{"subj":"23453664-22532422-2049533","pred":"source","obj":"2_test"},{"subj":"23453664-17785587-2049533","pred":"source","obj":"2_test"},{"subj":"23453664-21745483-2049533","pred":"source","obj":"2_test"},{"subj":"23453664-16332973-2049534","pred":"source","obj":"2_test"},{"subj":"23453664-10583221-2049535","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#ec9493","default":true}]}]}}