Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants

Usb1 controls U6 snRNP assembly through evolutionarily divergent cyclic phosphodiesterase activities

(2017) Allison L. Didychuk et al.   Nature Communications

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

(2016) A. J. Walne et al.   HAEMATOLOGICA

Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation

(2016) Sara S. Kilic et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

(2016) A. J. Walne et al.   HAEMATOLOGICA

Poikiloderma with neutropenia: Genotype-ethnic origin correlation, expanding phenotype and literature review

(2014) Asuman Koparir et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia

(2012) C. Hilcenko et al.   BLOOD

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

(2012) W. Rodgers et al.   BRITISH JOURNAL OF DERMATOLOGY

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification

(2012) S. Mroczek et al.   GENES & DEVELOPMENT

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

(2012) Elisa A Colombo et al.   Orphanet Journal of Rare Diseases

Mpn1, Mutated in Poikiloderma with Neutropenia Protein 1, Is a Conserved 3′-to-5′ RNA Exonuclease Processing U6 Small Nuclear RNA

(2012) Vadim Shchepachev et al.   Cell Reports

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma

(2011) Juliette Piard et al.   European Journal of Medical Genetics

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

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

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

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

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