Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings.

European journal of medical genetics - 1 Jan 2019

Concolino Daniela, Sestito Simona, Falvo Francesca, Romano Giusy, Ceravolo Miriam, Anastasio Elisa, Pensabene Licia, Colombo Elisa A, Larizza Lidia

Abstract excerpt

Clericuzio-type poikiloderma with neutropenia is a well-defined nosological entity, but despite a remarkable number of clinical reports, no long term follow-up data has been presented to date regarding patients with this rare condition. Here we describe the results of clinical follow-up of three siblings, one male (Patient 1) and two females (Patients 2 and 3), subsequent to their first clinical and then...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Neutropenia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Phosphoric Diester Hydrolases

Share to Siblings

Share to Skin Abnormalities

Source

Identifiers

PMID: 29753917
DOI: 10.1016/j.ejmg.2018.05.007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings.PMID 29753917Read ↗

Insights Into Poikiloderma With Neutropenia: Genotypic and Phenotypic Analysis of 90 Cases With a New Case Report.Semantic proximity Read ↗

Hypogammaglobulinemia in a Child with Clericuzio-Type Poikiloderma with Neutropenia.Semantic proximity Read ↗

Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis.Semantic proximity Read ↗

Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation.Semantic proximity Read ↗

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

Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.Semantic proximity Read ↗

Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.Semantic proximity Read ↗

Clericuzio-type poikiloderma with neutropenia in a patient from India.Semantic proximity Read ↗

Poikiloderma with neutropenia, Clericuzio type, in a family from MoroccoSemantic proximity Read ↗

Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.Semantic proximity Read ↗

Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene.Semantic proximity Read ↗

Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.