Matches in SemOpenAlex for { <https://semopenalex.org/work/W4310447611> ?p ?o ?g. }
Showing items 1 to 77 of
77
with 100 items per page.
- W4310447611 endingPage "134" @default.
- W4310447611 startingPage "130" @default.
- W4310447611 abstract "Epidermolysis bullosa is a rare genetic skin disease in which skin easily peels off and blisters are formed with mild mechanical trauma. It is classified into simple, borderline, dysmorphic, and mixed type. These four subtypes are further classified according to the location of gene mutation and genetic patterns. Epidermolysis bullosa simplex (EBS) is characterized by separation in the epidermal or subepidermal layer. And it is mostly caused by mutation of keratin 5 (KRT5) and KRT14 genes. Recently, genetic test has become increasingly important for diagnosis, confirming subtypes and genetic counseling. And there are moderate correlation exists between the EBS phenotype and genotype. Here, we report a case of 2-day-old boy with EBS Dowling-Meara type (EBS-DM) diagnosed by mutation analysis in KRT14." @default.
- W4310447611 created "2022-12-10" @default.
- W4310447611 creator A5001935055 @default.
- W4310447611 creator A5073001015 @default.
- W4310447611 date "2022-11-30" @default.
- W4310447611 modified "2023-10-18" @default.
- W4310447611 title "A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn" @default.
- W4310447611 cites W1978830815 @default.
- W4310447611 cites W2002150021 @default.
- W4310447611 cites W2019442375 @default.
- W4310447611 cites W2021802957 @default.
- W4310447611 cites W2055240903 @default.
- W4310447611 cites W2057648497 @default.
- W4310447611 cites W2342842067 @default.
- W4310447611 cites W3017139233 @default.
- W4310447611 doi "https://doi.org/10.5385/nm.2022.29.4.130" @default.
- W4310447611 hasPublicationYear "2022" @default.
- W4310447611 type Work @default.
- W4310447611 citedByCount "0" @default.
- W4310447611 crossrefType "journal-article" @default.
- W4310447611 hasAuthorship W4310447611A5001935055 @default.
- W4310447611 hasAuthorship W4310447611A5073001015 @default.
- W4310447611 hasBestOaLocation W43104476111 @default.
- W4310447611 hasConcept C102230213 @default.
- W4310447611 hasConcept C104317684 @default.
- W4310447611 hasConcept C126322002 @default.
- W4310447611 hasConcept C127716648 @default.
- W4310447611 hasConcept C141035611 @default.
- W4310447611 hasConcept C142724271 @default.
- W4310447611 hasConcept C16005928 @default.
- W4310447611 hasConcept C170178370 @default.
- W4310447611 hasConcept C2778266373 @default.
- W4310447611 hasConcept C2778405274 @default.
- W4310447611 hasConcept C2780673598 @default.
- W4310447611 hasConcept C2781207856 @default.
- W4310447611 hasConcept C501734568 @default.
- W4310447611 hasConcept C54355233 @default.
- W4310447611 hasConcept C71924100 @default.
- W4310447611 hasConcept C81241287 @default.
- W4310447611 hasConcept C86803240 @default.
- W4310447611 hasConceptScore W4310447611C102230213 @default.
- W4310447611 hasConceptScore W4310447611C104317684 @default.
- W4310447611 hasConceptScore W4310447611C126322002 @default.
- W4310447611 hasConceptScore W4310447611C127716648 @default.
- W4310447611 hasConceptScore W4310447611C141035611 @default.
- W4310447611 hasConceptScore W4310447611C142724271 @default.
- W4310447611 hasConceptScore W4310447611C16005928 @default.
- W4310447611 hasConceptScore W4310447611C170178370 @default.
- W4310447611 hasConceptScore W4310447611C2778266373 @default.
- W4310447611 hasConceptScore W4310447611C2778405274 @default.
- W4310447611 hasConceptScore W4310447611C2780673598 @default.
- W4310447611 hasConceptScore W4310447611C2781207856 @default.
- W4310447611 hasConceptScore W4310447611C501734568 @default.
- W4310447611 hasConceptScore W4310447611C54355233 @default.
- W4310447611 hasConceptScore W4310447611C71924100 @default.
- W4310447611 hasConceptScore W4310447611C81241287 @default.
- W4310447611 hasConceptScore W4310447611C86803240 @default.
- W4310447611 hasIssue "4" @default.
- W4310447611 hasLocation W43104476111 @default.
- W4310447611 hasOpenAccess W4310447611 @default.
- W4310447611 hasPrimaryLocation W43104476111 @default.
- W4310447611 hasRelatedWork W1973031977 @default.
- W4310447611 hasRelatedWork W1993860255 @default.
- W4310447611 hasRelatedWork W2003797736 @default.
- W4310447611 hasRelatedWork W2006723235 @default.
- W4310447611 hasRelatedWork W2051804495 @default.
- W4310447611 hasRelatedWork W2063182903 @default.
- W4310447611 hasRelatedWork W2075235849 @default.
- W4310447611 hasRelatedWork W2086378648 @default.
- W4310447611 hasRelatedWork W2119264608 @default.
- W4310447611 hasRelatedWork W2149827167 @default.
- W4310447611 hasVolume "29" @default.
- W4310447611 isParatext "false" @default.
- W4310447611 isRetracted "false" @default.
- W4310447611 workType "article" @default.