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 hereditary dystrophic epidermolysis bullosa: a genetically diagnosed case report].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Apr 2013

Jiang Yi, Hou Xin-lin, Li Xin, Lin Zhi-sen, Cui Chen

Abstract excerpt

OBJECTIVE: To investigate the diagnostic value of clinical manifestations, pathologic findings of skin biopsies and genetic testing in the diagnosis of neonatal hereditary dystrophic epidermolysis bullosa. METHODS: Here we reported one case of hereditary dystrophic epidermolysis bullosa with neonatal onset, and explored the clinical and pathological features,as well as the genetic diagnosis,of the disease...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Collagen Type VII

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epidermolysis Bullosa Dystrophica

Share to Heterozygote

Share to Infant, Newborn

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 23591337

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

[Neonatal hereditary dystrophic epidermolysis bullosa: a genetically diagnosed case report].PMID 23591337Read ↗

[Transient bullous lesions - a case of de novo mutation in the COL7A1 gene in patient with Epidermolysis bullosa dystrophica].Semantic proximity Read ↗

Molecular genetic basis of epidermolysis bullosaSemantic proximity Read ↗

Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa within the same family: two phenotypes associated with a COL7A1 mutation.Semantic proximity Read ↗

[COL7A1 gene mutation analysis of dystrophic epidermolysis bullosa and prenatal diagnosis].Semantic proximity Read ↗

[Hereditary epidermolysis bullosa: towards classification and genetic counseling based upon identification of molecular defects].Semantic proximity Read ↗

[Epidermolysis bullosa : Diagnosis and therapy].Semantic proximity Read ↗

[From gene to disease; epidermolysis bullosa due to mutations in proteins in or around the hemidesmosome].Semantic proximity Read ↗

Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?Semantic proximity Read ↗

A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant.Semantic proximity Read ↗

[Genetic analysis of a child with recessive dystrophic epidermolysis bullosa due to compound heterozygous variants of (COL7A1 gene].Semantic proximity Read ↗

Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi ArabiaSemantic proximity Read ↗

[Inherited epidermolysis bullosa].Semantic proximity Read ↗

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