Matches in SemOpenAlex for { <https://semopenalex.org/work/W3034852218> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W3034852218 endingPage "367" @default.
- W3034852218 startingPage "363" @default.
- W3034852218 abstract "Coats plus syndrome (CP) is a rare condition characterized by bilateral exudative retinal telangiectasias with associated systemic disorders primarily affecting the brain, bone and gastrointestinal tract due to a mutation in the CTC1 gene. CTC1 mutations are also known to cause dyskeratosis congenita (DC), which is an inherited bone marrow failure syndrome characterized by skin pigmentation abnormalities, nail dystrophy, and oral leukoplakia. This is the first reported case of a patient diagnosed with both CP and DC caused by compound heterozygous CTC1 gene mutations. Moreover, one of the variant mutations found in this patient has never been published before." @default.
- W3034852218 created "2020-06-19" @default.
- W3034852218 creator A5003464199 @default.
- W3034852218 creator A5006123108 @default.
- W3034852218 creator A5008033402 @default.
- W3034852218 creator A5030206920 @default.
- W3034852218 creator A5030445939 @default.
- W3034852218 creator A5039648429 @default.
- W3034852218 creator A5068943169 @default.
- W3034852218 creator A5080016206 @default.
- W3034852218 creator A5081101278 @default.
- W3034852218 date "2020-06-16" @default.
- W3034852218 modified "2023-10-18" @default.
- W3034852218 title "A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations" @default.
- W3034852218 cites W1981316458 @default.
- W3034852218 cites W1988184131 @default.
- W3034852218 cites W1994932701 @default.
- W3034852218 cites W2000571874 @default.
- W3034852218 cites W2006992490 @default.
- W3034852218 cites W2054430778 @default.
- W3034852218 cites W2057046347 @default.
- W3034852218 cites W2070795324 @default.
- W3034852218 cites W2070822714 @default.
- W3034852218 cites W2169157966 @default.
- W3034852218 cites W2538116180 @default.
- W3034852218 cites W2759702861 @default.
- W3034852218 cites W2802026635 @default.
- W3034852218 cites W2913315659 @default.
- W3034852218 doi "https://doi.org/10.1080/13816810.2020.1772315" @default.
- W3034852218 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32543263" @default.
- W3034852218 hasPublicationYear "2020" @default.
- W3034852218 type Work @default.
- W3034852218 sameAs 3034852218 @default.
- W3034852218 citedByCount "12" @default.
- W3034852218 countsByYear W30348522182021 @default.
- W3034852218 countsByYear W30348522182022 @default.
- W3034852218 countsByYear W30348522182023 @default.
- W3034852218 crossrefType "journal-article" @default.
- W3034852218 hasAuthorship W3034852218A5003464199 @default.
- W3034852218 hasAuthorship W3034852218A5006123108 @default.
- W3034852218 hasAuthorship W3034852218A5008033402 @default.
- W3034852218 hasAuthorship W3034852218A5030206920 @default.
- W3034852218 hasAuthorship W3034852218A5030445939 @default.
- W3034852218 hasAuthorship W3034852218A5039648429 @default.
- W3034852218 hasAuthorship W3034852218A5068943169 @default.
- W3034852218 hasAuthorship W3034852218A5080016206 @default.
- W3034852218 hasAuthorship W3034852218A5081101278 @default.
- W3034852218 hasConcept C104317684 @default.
- W3034852218 hasConcept C12125453 @default.
- W3034852218 hasConcept C142724271 @default.
- W3034852218 hasConcept C16005928 @default.
- W3034852218 hasConcept C177336024 @default.
- W3034852218 hasConcept C2777304866 @default.
- W3034852218 hasConcept C2779285011 @default.
- W3034852218 hasConcept C2779915019 @default.
- W3034852218 hasConcept C2780713498 @default.
- W3034852218 hasConcept C2994225774 @default.
- W3034852218 hasConcept C501734568 @default.
- W3034852218 hasConcept C54355233 @default.
- W3034852218 hasConcept C71924100 @default.
- W3034852218 hasConcept C86803240 @default.
- W3034852218 hasConceptScore W3034852218C104317684 @default.
- W3034852218 hasConceptScore W3034852218C12125453 @default.
- W3034852218 hasConceptScore W3034852218C142724271 @default.
- W3034852218 hasConceptScore W3034852218C16005928 @default.
- W3034852218 hasConceptScore W3034852218C177336024 @default.
- W3034852218 hasConceptScore W3034852218C2777304866 @default.
- W3034852218 hasConceptScore W3034852218C2779285011 @default.
- W3034852218 hasConceptScore W3034852218C2779915019 @default.
- W3034852218 hasConceptScore W3034852218C2780713498 @default.
- W3034852218 hasConceptScore W3034852218C2994225774 @default.
- W3034852218 hasConceptScore W3034852218C501734568 @default.
- W3034852218 hasConceptScore W3034852218C54355233 @default.
- W3034852218 hasConceptScore W3034852218C71924100 @default.
- W3034852218 hasConceptScore W3034852218C86803240 @default.
- W3034852218 hasIssue "4" @default.
- W3034852218 hasLocation W30348522181 @default.
- W3034852218 hasOpenAccess W3034852218 @default.
- W3034852218 hasPrimaryLocation W30348522181 @default.
- W3034852218 hasRelatedWork W2031464773 @default.
- W3034852218 hasRelatedWork W2076982473 @default.
- W3034852218 hasRelatedWork W2085895414 @default.
- W3034852218 hasRelatedWork W2097666416 @default.
- W3034852218 hasRelatedWork W2985920261 @default.
- W3034852218 hasRelatedWork W3005956735 @default.
- W3034852218 hasRelatedWork W3006065143 @default.
- W3034852218 hasRelatedWork W3024168541 @default.
- W3034852218 hasRelatedWork W3034852218 @default.
- W3034852218 hasRelatedWork W3210639182 @default.
- W3034852218 hasVolume "41" @default.
- W3034852218 isParatext "false" @default.
- W3034852218 isRetracted "false" @default.
- W3034852218 magId "3034852218" @default.
- W3034852218 workType "article" @default.