From clinical findings to the pathomechanism of poikiloderma with neutropenia

USB1 is a miRNA deadenylase that regulates hematopoietic development

(2023) Ho-Chang Jeong et al.   SCIENCE

Defective monocyte plasticity and altered cAMP pathway characterize USB1‐mutated poikiloderma with neutropenia Clericuzio type

(2023) Prahlad Parajuli et al.   BRITISH JOURNAL OF HAEMATOLOGY

Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation

(2021) Hassan Vahidnezhad et al.   MATRIX BIOLOGY

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

(2018) Elisa A. Colombo et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) R. E. Dickinson et al.   BLOOD

Poikiloderma with Neutropenia: Report of Three Cases Including One with Calcinosis Cutis

(2011) Rattanavalai Chantorn et al.   PEDIATRIC DERMATOLOGY

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

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

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