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 case of Netherton syndrome with mutation in SPINK5 and FLG.

European journal of dermatology : EJD - 1 Oct 2017

Shi Zhen-Rui, Xu Min, Tan Guo-Zhen, Wang Liangchun, Guo Qing, Tang Zeng-Qi

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 Homozygote
Share to Child
Share to Filaggrin Proteins
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intermediate Filament Proteins

Share to Mutation

Share to Proteinase Inhibitory Proteins, Secretory

Share to Serine Peptidase Inhibitor Kazal-Type 5

Source

Identifiers

PMID: 28943498
DOI: 10.1684/ejd.2017.3078

Genes

FLG
SPINK5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case of Netherton syndrome with mutation in SPINK5 and FLG.PMID 28943498Read ↗

SPINK5 mutation and FLG gene deletion in an infant with Netherton syndrome.Semantic proximity Read ↗

Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT.Semantic proximity Read ↗

A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.Semantic proximity Read ↗

A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome with novel FLCN gene mutations and different clinical presentations: Case series.Semantic proximity Read ↗

New mutation leading to the full variety of typical features of the Netherton syndrome.Semantic proximity Read ↗

A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome in an African patient and a novel mutation in the FLCN gene.Semantic proximity Read ↗

A novel SPINK5 donor splice site variant in a child with Netherton syndrome.Semantic proximity Read ↗

A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene.Semantic proximity Read ↗

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.Semantic proximity Read ↗

Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.Semantic proximity Read ↗

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