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Dyskeratosis congenita (DC) is a rare, multisystemic telomere biology disorder characterized by abnormal skin pigmentation, oral leukoplakia and nail dysplasia along with various somatic findings. Hoyeraal\u2013Hreidarsson syndrome (HHS) is generally an autosomal recessively inherited subgroup showing growth retardation, microcephaly, cerebellar hypoplasia and severe immunodeficiency. We here report on a consanguineous family from Turkey, in which a missense variant in the reverse transcriptase domain of the <jats:italic>TERT<\/jats:italic> gene segregated with short telomere lengths and was associated with full\u2010blown short telomere syndrome phenotype in the index; and heterogeneous adult\u2010onset manifestations in heterozygous individuals.<\/jats:p>","DOI":"10.1002\/ajmg.a.62602","type":"journal-article","created":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T08:23:33Z","timestamp":1639038213000},"page":"1226-1232","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Biallelic <i>TERT<\/i> variant leads to Hoyeraal\u2013Hreidarsson syndrome with additional dyskeratosis congenita 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