FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2001772334> ?p ?o ?g. }

• W2001772334 endingPage "2937" @default.
• W2001772334 startingPage "2931" @default.
• W2001772334 abstract "X-linked hypophosphatemia (XLH) is caused by mutations in PHEX. Several other genetic forms of hypophosphatemia have also been described. These disorders share variable clinical presentation ranging from mild hypophosphatemia to severe lower extremity bowing. We report on a 43-year-old woman with short stature, painful leg deformities, and poor dentation. Her biochemical profile showed hypophosphatemia with renal phosphate wasting. Due to unusually severe clinical presentation and absence of mutations in Sanger sequencing of the PHEX gene, quantitative multiplex ligation-dependent probe amplification was performed. A large deletion within the PHEX gene encompassing exons 8 to 11 was identified. We generated a specific junction fragment using long-range PCR and sequenced the junction fragment to determine the exact deletion breakpoints. We found a heterozygous novel complex re-arrangement involving gross deletions, insertions, and inversion of PHEX (hg19:g.22,115,003_22,141,395del;g:22,145,536_22,150,789delinsCins22,114,640_22,114,698invinsA). Thus, the complex re-arrangement including a deletion of coding exons 8 to 11 of the PHEX can be regarded as the cause of XLH in the patient reported here. Phosphate and active vitamin D treatment was initiated with subsequent relief in bone pain and physical improvement. This report expands the spectrum of clinical severity underlying genetic defects in XLH and highlights the importance of conventional medical therapy even at adult age. Furthermore, our findings underscore the importance of search for gene deletions in patients with suspected XLH. © 2014 Wiley Periodicals, Inc." @default.
• W2001772334 created "2016-06-24" @default.
• W2001772334 creator A5012152403 @default.
• W2001772334 creator A5013164371 @default.
• W2001772334 creator A5064764888 @default.
• W2001772334 creator A5081638590 @default.
• W2001772334 date "2014-08-13" @default.
• W2001772334 modified "2023-10-17" @default.
• W2001772334 title "Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of the<i>PHEX</i>gene" @default.
• W2001772334 cites W1563425273 @default.
• W2001772334 cites W1675066320 @default.
• W2001772334 cites W1974807791 @default.
• W2001772334 cites W1982762889 @default.
• W2001772334 cites W1983440961 @default.
• W2001772334 cites W1984041554 @default.
• W2001772334 cites W1984898235 @default.
• W2001772334 cites W1985742682 @default.
• W2001772334 cites W2032151185 @default.
• W2001772334 cites W2035451751 @default.
• W2001772334 cites W2037380317 @default.
• W2001772334 cites W2039960897 @default.
• W2001772334 cites W2051959338 @default.
• W2001772334 cites W2072767726 @default.
• W2001772334 cites W2077437049 @default.
• W2001772334 cites W2082634243 @default.
• W2001772334 cites W2087642548 @default.
• W2001772334 cites W2088108125 @default.
• W2001772334 cites W2090716877 @default.
• W2001772334 cites W2124597554 @default.
• W2001772334 cites W2134229251 @default.
• W2001772334 cites W2137216316 @default.
• W2001772334 cites W2165053324 @default.
• W2001772334 cites W2171100097 @default.
• W2001772334 cites W4292689881 @default.
• W2001772334 doi "https://doi.org/10.1002/ajmg.a.36721" @default.
• W2001772334 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25124877" @default.
• W2001772334 hasPublicationYear "2014" @default.
• W2001772334 type Work @default.
• W2001772334 sameAs 2001772334 @default.
• W2001772334 citedByCount "5" @default.
• W2001772334 countsByYear W20017723342015 @default.
• W2001772334 countsByYear W20017723342017 @default.
• W2001772334 countsByYear W20017723342020 @default.
• W2001772334 countsByYear W20017723342021 @default.
• W2001772334 crossrefType "journal-article" @default.
• W2001772334 hasAuthorship W2001772334A5012152403 @default.
• W2001772334 hasAuthorship W2001772334A5013164371 @default.
• W2001772334 hasAuthorship W2001772334A5064764888 @default.
• W2001772334 hasAuthorship W2001772334A5081638590 @default.
• W2001772334 hasConcept C104317684 @default.
• W2001772334 hasConcept C120599132 @default.
• W2001772334 hasConcept C124490489 @default.
• W2001772334 hasConcept C126322002 @default.
• W2001772334 hasConcept C134018914 @default.
• W2001772334 hasConcept C2776338720 @default.
• W2001772334 hasConcept C2776489590 @default.
• W2001772334 hasConcept C2777871287 @default.
• W2001772334 hasConcept C2778573388 @default.
• W2001772334 hasConcept C2911197707 @default.
• W2001772334 hasConcept C2994225774 @default.
• W2001772334 hasConcept C36823959 @default.
• W2001772334 hasConcept C501734568 @default.
• W2001772334 hasConcept C54355233 @default.
• W2001772334 hasConcept C71924100 @default.
• W2001772334 hasConcept C76818968 @default.
• W2001772334 hasConcept C86803240 @default.
• W2001772334 hasConceptScore W2001772334C104317684 @default.
• W2001772334 hasConceptScore W2001772334C120599132 @default.
• W2001772334 hasConceptScore W2001772334C124490489 @default.
• W2001772334 hasConceptScore W2001772334C126322002 @default.
• W2001772334 hasConceptScore W2001772334C134018914 @default.
• W2001772334 hasConceptScore W2001772334C2776338720 @default.
• W2001772334 hasConceptScore W2001772334C2776489590 @default.
• W2001772334 hasConceptScore W2001772334C2777871287 @default.
• W2001772334 hasConceptScore W2001772334C2778573388 @default.
• W2001772334 hasConceptScore W2001772334C2911197707 @default.
• W2001772334 hasConceptScore W2001772334C2994225774 @default.
• W2001772334 hasConceptScore W2001772334C36823959 @default.
• W2001772334 hasConceptScore W2001772334C501734568 @default.
• W2001772334 hasConceptScore W2001772334C54355233 @default.
• W2001772334 hasConceptScore W2001772334C71924100 @default.
• W2001772334 hasConceptScore W2001772334C76818968 @default.
• W2001772334 hasConceptScore W2001772334C86803240 @default.
• W2001772334 hasFunder F4320321108 @default.
• W2001772334 hasFunder F4320322581 @default.
• W2001772334 hasIssue "11" @default.
• W2001772334 hasLocation W20017723341 @default.
• W2001772334 hasLocation W20017723342 @default.
• W2001772334 hasOpenAccess W2001772334 @default.
• W2001772334 hasPrimaryLocation W20017723341 @default.
• W2001772334 hasRelatedWork W1983440961 @default.
• W2001772334 hasRelatedWork W1984898235 @default.
• W2001772334 hasRelatedWork W2001772334 @default.
• W2001772334 hasRelatedWork W2027457282 @default.
• W2001772334 hasRelatedWork W2090889968 @default.
• W2001772334 hasRelatedWork W2807132363 @default.
• W2001772334 hasRelatedWork W3022953955 @default.
• W2001772334 hasRelatedWork W3025603420 @default.

• next