Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

Lina Basel-Vanagaite; Inderjeet Dokal; Hannah Tamary; Abraham Avigdor; Ben Zion Garty; Alexander Volkov; Tom Vulliamy

doi:10.3324/haematol.12317

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

Lina Basel-Vanagaite, Inderjeet Dokal, Hannah Tamary, Abraham Avigdor, Ben Zion Garty, Alexander Volkov, Tom Vulliamy

Clinical Departments

Research output: Contribution to journal › Letter › peer-review

Original language	English
Pages (from-to)	943-944
Number of pages	2
Journal	Haematologica
Volume	93
Issue number	6
DOIs	https://doi.org/10.3324/haematol.12317
State	Published - Jun 2008

Keywords

Anticipation
Cardiac fibrosis
Dyskeratosis congenita
TERT
Telomere shortening

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10.3324/haematol.12317

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title = "Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations",

keywords = "Anticipation, Cardiac fibrosis, Dyskeratosis congenita, TERT, Telomere shortening",

author = "Lina Basel-Vanagaite and Inderjeet Dokal and Hannah Tamary and Abraham Avigdor and Garty, {Ben Zion} and Alexander Volkov and Tom Vulliamy",

year = "2008",

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AU - Basel-Vanagaite, Lina

AU - Dokal, Inderjeet

AU - Tamary, Hannah

AU - Avigdor, Abraham

AU - Garty, Ben Zion

AU - Volkov, Alexander

AU - Vulliamy, Tom

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KW - Anticipation

KW - Cardiac fibrosis

KW - Dyskeratosis congenita

KW - TERT

KW - Telomere shortening

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JO - Haematologica

JF - Haematologica

SN - 0390-6078

IS - 6

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Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

Keywords

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