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

Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting).

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Mar 2017

Dănescu S, Leppert J, Cosgarea R, Zurac S, Pop S, Baican A, Has C

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 Child, Preschool
Share to Dermatitis
Share to Desmoglein 1
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Hypersensitivity

Share to Mutation

Share to Severity of Illness Index

Source

Identifiers

PMID: 27632246
DOI: 10.1111/jdv.13967

Genes

DSG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting).PMID 27632246Read ↗

Unravelling the mystery: severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome with a novel homozygous mutation in DSG1.Semantic proximity Read ↗

[Homozygous desmoglein 1 gene mutations and severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome)].Semantic proximity Read ↗

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.Semantic proximity Read ↗

Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation.Semantic proximity Read ↗

SAM syndrome is characterized by extensive phenotypic heterogeneity.Semantic proximity Read ↗

Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.Semantic proximity Read ↗

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.Semantic proximity Read ↗

Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations.Semantic proximity Read ↗

Two novel mutations in SASH1 identified in a familial and a sporadic generalized lentiginosis phenotype in Koreans.Semantic proximity Read ↗

Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma.Semantic proximity Read ↗

Novel ADAR1 mutations in three cases of psoriasis coexisting with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.Semantic proximity Read ↗

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