Matches in SemOpenAlex for { <https://semopenalex.org/work/W2337308946> ?p ?o ?g. }
Showing items 1 to 74 of
74
with 100 items per page.
- W2337308946 abstract "Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye disorders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T;" @default.
- W2337308946 created "2016-06-24" @default.
- W2337308946 creator A5072541481 @default.
- W2337308946 date "2015-01-01" @default.
- W2337308946 modified "2023-09-23" @default.
- W2337308946 title "Estudio clínico y molecular en un escolar con displasia ectodérmica hipohidrótica ligada al X Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia" @default.
- W2337308946 cites W2010973950 @default.
- W2337308946 cites W2017857362 @default.
- W2337308946 cites W2050946095 @default.
- W2337308946 cites W2056312220 @default.
- W2337308946 cites W2064943881 @default.
- W2337308946 cites W2077440552 @default.
- W2337308946 cites W2081694722 @default.
- W2337308946 cites W2101278004 @default.
- W2337308946 cites W2129956203 @default.
- W2337308946 cites W2142169438 @default.
- W2337308946 cites W2152759531 @default.
- W2337308946 hasPublicationYear "2015" @default.
- W2337308946 type Work @default.
- W2337308946 sameAs 2337308946 @default.
- W2337308946 citedByCount "0" @default.
- W2337308946 crossrefType "journal-article" @default.
- W2337308946 hasAuthorship W2337308946A5072541481 @default.
- W2337308946 hasConcept C104317684 @default.
- W2337308946 hasConcept C16005928 @default.
- W2337308946 hasConcept C199343813 @default.
- W2337308946 hasConcept C2777230673 @default.
- W2337308946 hasConcept C2777304866 @default.
- W2337308946 hasConcept C2778102086 @default.
- W2337308946 hasConcept C2779385247 @default.
- W2337308946 hasConcept C501734568 @default.
- W2337308946 hasConcept C54355233 @default.
- W2337308946 hasConcept C71924100 @default.
- W2337308946 hasConcept C75563809 @default.
- W2337308946 hasConcept C86803240 @default.
- W2337308946 hasConceptScore W2337308946C104317684 @default.
- W2337308946 hasConceptScore W2337308946C16005928 @default.
- W2337308946 hasConceptScore W2337308946C199343813 @default.
- W2337308946 hasConceptScore W2337308946C2777230673 @default.
- W2337308946 hasConceptScore W2337308946C2777304866 @default.
- W2337308946 hasConceptScore W2337308946C2778102086 @default.
- W2337308946 hasConceptScore W2337308946C2779385247 @default.
- W2337308946 hasConceptScore W2337308946C501734568 @default.
- W2337308946 hasConceptScore W2337308946C54355233 @default.
- W2337308946 hasConceptScore W2337308946C71924100 @default.
- W2337308946 hasConceptScore W2337308946C75563809 @default.
- W2337308946 hasConceptScore W2337308946C86803240 @default.
- W2337308946 hasLocation W23373089461 @default.
- W2337308946 hasOpenAccess W2337308946 @default.
- W2337308946 hasPrimaryLocation W23373089461 @default.
- W2337308946 hasRelatedWork W1510993514 @default.
- W2337308946 hasRelatedWork W1583893096 @default.
- W2337308946 hasRelatedWork W1602991147 @default.
- W2337308946 hasRelatedWork W1910932409 @default.
- W2337308946 hasRelatedWork W2064943881 @default.
- W2337308946 hasRelatedWork W2178258771 @default.
- W2337308946 hasRelatedWork W2182808795 @default.
- W2337308946 hasRelatedWork W2298749308 @default.
- W2337308946 hasRelatedWork W2357583864 @default.
- W2337308946 hasRelatedWork W2405537411 @default.
- W2337308946 hasRelatedWork W2418703036 @default.
- W2337308946 hasRelatedWork W2560129978 @default.
- W2337308946 hasRelatedWork W2925552534 @default.
- W2337308946 hasRelatedWork W2945060561 @default.
- W2337308946 hasRelatedWork W3046367500 @default.
- W2337308946 hasRelatedWork W3101805225 @default.
- W2337308946 hasRelatedWork W3148956496 @default.
- W2337308946 hasRelatedWork W3150159036 @default.
- W2337308946 hasRelatedWork W1724100184 @default.
- W2337308946 hasRelatedWork W2313664475 @default.
- W2337308946 isParatext "false" @default.
- W2337308946 isRetracted "false" @default.
- W2337308946 magId "2337308946" @default.
- W2337308946 workType "article" @default.