Matches in SemOpenAlex for { <https://semopenalex.org/work/W2077582512> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W2077582512 endingPage "609" @default.
- W2077582512 startingPage "606" @default.
- W2077582512 abstract "Abnormalities in the DAX-1 gene (dosage-sensitive sex reversal–adrenal hypoplasia gene on the X chromosome) are a well-recognized cause of congenital adrenal hypoplasia. DAX-1 is expressed in the adrenal cortex, gonads, hypothalamus and anterior pituitary, which gives rise to the clinical features of this deletion. Presentations are varied but salt-wasting and/or hypoglycaemia are the most common in an infant, with late onset of hypogonadotrophic hypogonadism. Over 80 different mutations in this gene have been identified. We present three unrelated cases with variable clinical presentations, all with novel mutations in the DAX-1 gene." @default.
- W2077582512 created "2016-06-24" @default.
- W2077582512 creator A5011832228 @default.
- W2077582512 creator A5033823003 @default.
- W2077582512 creator A5038923266 @default.
- W2077582512 creator A5069654826 @default.
- W2077582512 creator A5073120436 @default.
- W2077582512 creator A5078540806 @default.
- W2077582512 date "2008-09-09" @default.
- W2077582512 modified "2023-09-27" @default.
- W2077582512 title "Three cases of congenital adrenal hypoplasia with novel mutations in the (NROB1) DAX-1 gene" @default.
- W2077582512 cites W1965536937 @default.
- W2077582512 cites W1978587840 @default.
- W2077582512 cites W2011935366 @default.
- W2077582512 cites W2116549709 @default.
- W2077582512 cites W2139013669 @default.
- W2077582512 cites W2161593982 @default.
- W2077582512 cites W2165211774 @default.
- W2077582512 cites W2168933737 @default.
- W2077582512 doi "https://doi.org/10.1258/acb.2008.008038" @default.
- W2077582512 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18941128" @default.
- W2077582512 hasPublicationYear "2008" @default.
- W2077582512 type Work @default.
- W2077582512 sameAs 2077582512 @default.
- W2077582512 citedByCount "7" @default.
- W2077582512 countsByYear W20775825122016 @default.
- W2077582512 countsByYear W20775825122019 @default.
- W2077582512 countsByYear W20775825122022 @default.
- W2077582512 crossrefType "journal-article" @default.
- W2077582512 hasAuthorship W2077582512A5011832228 @default.
- W2077582512 hasAuthorship W2077582512A5033823003 @default.
- W2077582512 hasAuthorship W2077582512A5038923266 @default.
- W2077582512 hasAuthorship W2077582512A5069654826 @default.
- W2077582512 hasAuthorship W2077582512A5073120436 @default.
- W2077582512 hasAuthorship W2077582512A5078540806 @default.
- W2077582512 hasConcept C104317684 @default.
- W2077582512 hasConcept C126322002 @default.
- W2077582512 hasConcept C134018914 @default.
- W2077582512 hasConcept C2775984644 @default.
- W2077582512 hasConcept C2777423934 @default.
- W2077582512 hasConcept C2777977426 @default.
- W2077582512 hasConcept C2778129406 @default.
- W2077582512 hasConcept C2779652256 @default.
- W2077582512 hasConcept C2780327212 @default.
- W2077582512 hasConcept C2781255401 @default.
- W2077582512 hasConcept C2910268463 @default.
- W2077582512 hasConcept C2994225774 @default.
- W2077582512 hasConcept C501734568 @default.
- W2077582512 hasConcept C54355233 @default.
- W2077582512 hasConcept C71315377 @default.
- W2077582512 hasConcept C71924100 @default.
- W2077582512 hasConcept C86803240 @default.
- W2077582512 hasConceptScore W2077582512C104317684 @default.
- W2077582512 hasConceptScore W2077582512C126322002 @default.
- W2077582512 hasConceptScore W2077582512C134018914 @default.
- W2077582512 hasConceptScore W2077582512C2775984644 @default.
- W2077582512 hasConceptScore W2077582512C2777423934 @default.
- W2077582512 hasConceptScore W2077582512C2777977426 @default.
- W2077582512 hasConceptScore W2077582512C2778129406 @default.
- W2077582512 hasConceptScore W2077582512C2779652256 @default.
- W2077582512 hasConceptScore W2077582512C2780327212 @default.
- W2077582512 hasConceptScore W2077582512C2781255401 @default.
- W2077582512 hasConceptScore W2077582512C2910268463 @default.
- W2077582512 hasConceptScore W2077582512C2994225774 @default.
- W2077582512 hasConceptScore W2077582512C501734568 @default.
- W2077582512 hasConceptScore W2077582512C54355233 @default.
- W2077582512 hasConceptScore W2077582512C71315377 @default.
- W2077582512 hasConceptScore W2077582512C71924100 @default.
- W2077582512 hasConceptScore W2077582512C86803240 @default.
- W2077582512 hasIssue "6" @default.
- W2077582512 hasLocation W20775825121 @default.
- W2077582512 hasLocation W20775825122 @default.
- W2077582512 hasOpenAccess W2077582512 @default.
- W2077582512 hasPrimaryLocation W20775825121 @default.
- W2077582512 hasRelatedWork W1972182669 @default.
- W2077582512 hasRelatedWork W2077582512 @default.
- W2077582512 hasRelatedWork W2105898923 @default.
- W2077582512 hasRelatedWork W2106814701 @default.
- W2077582512 hasRelatedWork W2162811903 @default.
- W2077582512 hasRelatedWork W2165211774 @default.
- W2077582512 hasRelatedWork W2409201759 @default.
- W2077582512 hasRelatedWork W2551770128 @default.
- W2077582512 hasRelatedWork W3032875426 @default.
- W2077582512 hasRelatedWork W4243317025 @default.
- W2077582512 hasVolume "45" @default.
- W2077582512 isParatext "false" @default.
- W2077582512 isRetracted "false" @default.
- W2077582512 magId "2077582512" @default.
- W2077582512 workType "article" @default.