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

A novel mutation in FOXN1 resulting in SCID: a case report and literature review.

Clinical immunology (Orlando, Fla.) - 1 Nov 2014

Chou Janet, Massaad Michel J, Wakim Rima Hanna, Bainter Wayne, Dbaibo Ghassan, Geha Raif S

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Fatal Outcome
Share to Forkhead Transcription Factors
Share to Infant
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Severe Combined Immunodeficiency

Share to Stem Cell Transplantation

Source

Identifiers

PMID: 25173801
DOI: 10.1016/j.clim.2014.08.005

Genes

FOXN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in FOXN1 resulting in SCID: a case report and literature review.PMID 25173801Read ↗

Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.Semantic proximity Read ↗

Clinical presentation of DFNB1.Semantic proximity Read ↗

Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1.Semantic proximity Read ↗

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.Semantic proximity Read ↗

The clinical presentation of DFNA15/POU4F3.Semantic proximity Read ↗

Human clinical phenotype associated with FOXN1 mutations.Semantic proximity Read ↗

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.Semantic proximity Read ↗

The multisystemic functions of FOXD1 in development and diseaseSemantic proximity Read ↗

Clinical phenotype of DFN2, DFN4 and DFN6.Semantic proximity Read ↗

Somatic mosaicism for a FOXG1 mutation: diagnostic implication.Semantic proximity Read ↗

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.Semantic proximity Read ↗

The clinical presentation of DFNB2.Semantic proximity Read ↗

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