FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2902448146> ?p ?o ?g. }

• W2902448146 abstract "Background: Molecular defects of CYP21A2 consistently decrease 21-hydroxylase activity and result in a variable expression of disease severity in patients with congenital adrenal hyperplasia (CAH). Aim: The genotype and biochemical findings were examined in an attempt to reveal any association to the degree of virilization in classic CAH patients. Methods: The study included 18 CAH patients with complete characterization of CYP21A2 mutations and were sorted based on the severity of the inherited mutations and the expected percentage of 21-hydroxylase enzyme activity. Results: Eleven out of the 18 patients manifested the SW form with the remaining seven exhibiting the SV form. The most frequent genetic defect in the classic salt-wasting (SW) and simple virilising (SV) forms was the IVS2-13A/C>G (36.1%) mutation, followed by delEX1-3 (19.4%) and p.Ile172Asn (19.4%). Four patients, who shared a combination of two mutations belonging to the most severe type, manifested only the SW form. Four out of five patients who shared homozygosity in the IVS2-13A/C>G mutation, demonstrated the SW form and only one demonstrated the SV form. All four patients who shared the p.Ile172Asn mutation, either in the homozygous or compound heterozygous state, manifested the SV form. Interestingly, a female neonate with SW, bearing the IVS2-13A/C>G/Large del, exhibited complete male virilisation (Prader 5). The remaining four affected female new-borns also exhibited the SW form, with two of them virilised as Prader 3 and the other two as Prader 4. Virilisation with clitoromegaly was also observed in one female, who presented premature adrenarche and carried the least severe p.Pro30Leu mutation. Conclusion: The frequency of the underlying mutations in our patients, with the classic form of CAH, varies but were quite similar to the ones reported in the Mediterranean region. Therefore, the identification of severe CYP21A2 defects in Cypriot patients and their comparison with the incidence and severity in different populations, will create a valuable diagnostic tool for genetic counseling in the classic form of CAH." @default.
• W2902448146 created "2018-12-11" @default.
• W2902448146 creator A5019096693 @default.
• W2902448146 creator A5038837130 @default.
• W2902448146 creator A5051930422 @default.
• W2902448146 creator A5084141373 @default.
• W2902448146 date "2018-12-03" @default.
• W2902448146 modified "2023-09-28" @default.
• W2902448146 title "Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia" @default.
• W2902448146 cites W1562496690 @default.
• W2902448146 cites W1563095952 @default.
• W2902448146 cites W1568019658 @default.
• W2902448146 cites W1972087695 @default.
• W2902448146 cites W1972604945 @default.
• W2902448146 cites W1975974257 @default.
• W2902448146 cites W1998509858 @default.
• W2902448146 cites W2001330488 @default.
• W2902448146 cites W2004011863 @default.
• W2902448146 cites W2011251507 @default.
• W2902448146 cites W2014646214 @default.
• W2902448146 cites W2014696401 @default.
• W2902448146 cites W2015197852 @default.
• W2902448146 cites W2027873399 @default.
• W2902448146 cites W2035430955 @default.
• W2902448146 cites W2039780881 @default.
• W2902448146 cites W2043199852 @default.
• W2902448146 cites W2046008545 @default.
• W2902448146 cites W2059708085 @default.
• W2902448146 cites W2062953189 @default.
• W2902448146 cites W2065002515 @default.
• W2902448146 cites W2066497061 @default.
• W2902448146 cites W2077894644 @default.
• W2902448146 cites W2083909817 @default.
• W2902448146 cites W2093451565 @default.
• W2902448146 cites W2103699943 @default.
• W2902448146 cites W2113189473 @default.
• W2902448146 cites W2117425767 @default.
• W2902448146 cites W2126119599 @default.
• W2902448146 cites W2130071672 @default.
• W2902448146 cites W2135707678 @default.
• W2902448146 cites W2138979064 @default.
• W2902448146 cites W2139145622 @default.
• W2902448146 cites W2148614804 @default.
• W2902448146 cites W2156366896 @default.
• W2902448146 cites W2171084347 @default.
• W2902448146 cites W2411414731 @default.
• W2902448146 cites W2470379208 @default.
• W2902448146 cites W2524264503 @default.
• W2902448146 cites W2604595434 @default.
• W2902448146 cites W2606141983 @default.
• W2902448146 cites W26291585 @default.
• W2902448146 cites W2762248845 @default.
• W2902448146 cites W2789086950 @default.
• W2902448146 cites W3095533299 @default.
• W2902448146 cites W4210400066 @default.
• W2902448146 cites W4233500203 @default.
• W2902448146 cites W4245214929 @default.
• W2902448146 cites W4376848764 @default.
• W2902448146 doi "https://doi.org/10.3389/fendo.2018.00733" @default.
• W2902448146 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6286958" @default.
• W2902448146 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30559721" @default.
• W2902448146 hasPublicationYear "2018" @default.
• W2902448146 type Work @default.
• W2902448146 sameAs 2902448146 @default.
• W2902448146 citedByCount "10" @default.
• W2902448146 countsByYear W29024481462019 @default.
• W2902448146 countsByYear W29024481462020 @default.
• W2902448146 countsByYear W29024481462021 @default.
• W2902448146 countsByYear W29024481462022 @default.
• W2902448146 countsByYear W29024481462023 @default.
• W2902448146 crossrefType "journal-article" @default.
• W2902448146 hasAuthorship W2902448146A5019096693 @default.
• W2902448146 hasAuthorship W2902448146A5038837130 @default.
• W2902448146 hasAuthorship W2902448146A5051930422 @default.
• W2902448146 hasAuthorship W2902448146A5084141373 @default.
• W2902448146 hasBestOaLocation W29024481461 @default.
• W2902448146 hasConcept C104317684 @default.
• W2902448146 hasConcept C12125453 @default.
• W2902448146 hasConcept C126322002 @default.
• W2902448146 hasConcept C134018914 @default.
• W2902448146 hasConcept C135763542 @default.
• W2902448146 hasConcept C2776631543 @default.
• W2902448146 hasConcept C2777767042 @default.
• W2902448146 hasConcept C2777911890 @default.
• W2902448146 hasConcept C2780321258 @default.
• W2902448146 hasConcept C501734568 @default.
• W2902448146 hasConcept C54355233 @default.
• W2902448146 hasConcept C71315377 @default.
• W2902448146 hasConcept C71924100 @default.
• W2902448146 hasConcept C86803240 @default.
• W2902448146 hasConceptScore W2902448146C104317684 @default.
• W2902448146 hasConceptScore W2902448146C12125453 @default.
• W2902448146 hasConceptScore W2902448146C126322002 @default.
• W2902448146 hasConceptScore W2902448146C134018914 @default.
• W2902448146 hasConceptScore W2902448146C135763542 @default.
• W2902448146 hasConceptScore W2902448146C2776631543 @default.
• W2902448146 hasConceptScore W2902448146C2777767042 @default.
• W2902448146 hasConceptScore W2902448146C2777911890 @default.
• W2902448146 hasConceptScore W2902448146C2780321258 @default.
• W2902448146 hasConceptScore W2902448146C501734568 @default.

• next