Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria

(2010) A.W. Arnold et al.   BRITISH JOURNAL OF DERMATOLOGY

Rothmund-Thomson syndrome

(2010) Lidia Larizza et al.   Orphanet Journal of Rare Diseases

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

(2009) Ludovica Volpi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Telomere length measurement by a novel monochrome multiplex quantitative PCR method

(2009) R. M. Cawthon   NUCLEIC ACIDS RESEARCH

Diminished Telomeric 3′ Overhangs Are Associated with Telomere Dysfunction in Hoyeraal-Hreidarsson Syndrome

(2009) Noa Lamm et al.   PLoS One

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

(2008) Sharon A. Savage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

(2008) Rahima Mostefai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

(2008) A. J. Walne et al.   BLOOD

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

(2008) T. Vulliamy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA