Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia

(2010) Carol Clericuzio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype

(2010) D. Concolino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) Amanda J. Walne et al.   HUMAN MOLECULAR GENETICS

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

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

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