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

Neonatal onset of congenital factor X deficiency: a description of two novel mutations with 6-year follow-up.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Sept 2015

Corsini Iuri, Menegatti Marzia, Cairo Andrea, Dani Carlo

Abstract excerpt

Factor X congenital deficiency is a rare coagulation disorder involving autosomal recessive transmission. The clinical situation depends on the extent of the defect and may appear at any age. We report a case of a term newborn who developed a life-threatening bleeding event on the first day of life because of a Factor X (FX) deficiency. Fresh frozen plasma and FX intravenous replacement therapy were administered...

Read the complete abstract on PubMed

Topics

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

Share to Follow-Up Studies
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Identifiers

PMID: 26083982
DOI: 10.1097/MBC.0000000000000305

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Neonatal onset of congenital factor X deficiency: a description of two novel mutations with 6-year follow-up.PMID 26083982Read ↗

Molecular characterization of a novel mutation in the factor XIII a subunit gene associated with a severe defect: importance of prophylactic substitution.Semantic proximity Read ↗

Factor XI deficiency--from molecular genetics to clinical management.Semantic proximity Read ↗

Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate.Semantic proximity Read ↗

Severe factor X deficiency in a pair of siblings: clinical presentation, phenotypic and genotypic features, prenatal diagnosis and treatment.Semantic proximity Read ↗

Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency.Semantic proximity Read ↗

Factor X Deficiency with Heterozygous Mutations of Novel p.G435S and Known p.G244R in a Patient Presenting with Severe Umbilical Hemorrhage.Semantic proximity Read ↗

Factor XI Deficiency.Semantic proximity Read ↗

Factor X deficiency and intracranial bleeding: who is at risk?Semantic proximity Read ↗

Severe congenital protein C deficiency: description of a new mutation and prophylactic protein C therapy and in vivo pharmacokinetics.Semantic proximity Read ↗

Delayed umbilical bleeding--a presenting feature for factor XIII deficiency: clinical features, genetics, and management.Semantic proximity Read ↗

[Inherited coagulation factor X deficiency caused by two novel mutations in factor X gene].Semantic proximity Read ↗

Two novel cases of cerebral haemorrhages at the neonatal period associated with inherited factor VII deficiency, one of them revealing a new nonsense mutation (Ser52Stop).Semantic proximity Read ↗

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