Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000597658> ?p ?o ?g. }
Showing items 1 to 94 of
94
with 100 items per page.
- W2000597658 endingPage "300" @default.
- W2000597658 startingPage "294" @default.
- W2000597658 abstract "In a 16-year-old girl with intellectual disability, irregular teeth, slight body asymmetry, and striated skin pigmentation, highly skewed X-inactivation increased the likelihood of an X-linked cause of her condition. Among these, prominent supraorbital ridges and hearing loss suggested a filaminopathy, but no filamin A mutation was found. The correct diagnosis, Borjeson-Forssman-Lehmann syndrome (BFLS, MIM#301900), was first made when a copy number array identified a de novo 15-kb deletion of the terminal 3 exons of the <i>PHF6</i> gene. In retrospect, her phenotype resembled that of males with BFLS. Such deletions of <i>PHF6 </i>have not been reported previously. This might be because <i>PHF6</i> mutations are rarely looked for in females since classical BFLS so far has been thought to be a male-specific syndrome, and large <i>PHF6 </i>deletions might be incompatible with male fetal survival. If this is the case, sporadic BFLS could be more frequent in females than in males." @default.
- W2000597658 created "2016-06-24" @default.
- W2000597658 creator A5031939159 @default.
- W2000597658 creator A5043102686 @default.
- W2000597658 creator A5051560721 @default.
- W2000597658 creator A5058990785 @default.
- W2000597658 creator A5075880630 @default.
- W2000597658 date "2010-01-01" @default.
- W2000597658 modified "2023-09-30" @default.
- W2000597658 title "<i>PHF6</i> Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females" @default.
- W2000597658 cites W113984154 @default.
- W2000597658 cites W1602451445 @default.
- W2000597658 cites W1986749727 @default.
- W2000597658 cites W1991335930 @default.
- W2000597658 cites W1996071856 @default.
- W2000597658 cites W1996753824 @default.
- W2000597658 cites W1997565067 @default.
- W2000597658 cites W1999937841 @default.
- W2000597658 cites W2000753063 @default.
- W2000597658 cites W2019411546 @default.
- W2000597658 cites W2024235612 @default.
- W2000597658 cites W2040373032 @default.
- W2000597658 cites W2040388250 @default.
- W2000597658 cites W2068972095 @default.
- W2000597658 cites W2086793662 @default.
- W2000597658 cites W2088292393 @default.
- W2000597658 cites W2108472019 @default.
- W2000597658 cites W2111159140 @default.
- W2000597658 cites W2117606390 @default.
- W2000597658 cites W2128593997 @default.
- W2000597658 cites W2157336007 @default.
- W2000597658 doi "https://doi.org/10.1159/000330111" @default.
- W2000597658 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3214959" @default.
- W2000597658 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22190899" @default.
- W2000597658 hasPublicationYear "2010" @default.
- W2000597658 type Work @default.
- W2000597658 sameAs 2000597658 @default.
- W2000597658 citedByCount "31" @default.
- W2000597658 countsByYear W20005976582012 @default.
- W2000597658 countsByYear W20005976582013 @default.
- W2000597658 countsByYear W20005976582014 @default.
- W2000597658 countsByYear W20005976582015 @default.
- W2000597658 countsByYear W20005976582016 @default.
- W2000597658 countsByYear W20005976582017 @default.
- W2000597658 countsByYear W20005976582019 @default.
- W2000597658 countsByYear W20005976582020 @default.
- W2000597658 countsByYear W20005976582021 @default.
- W2000597658 countsByYear W20005976582022 @default.
- W2000597658 countsByYear W20005976582023 @default.
- W2000597658 crossrefType "journal-article" @default.
- W2000597658 hasAuthorship W2000597658A5031939159 @default.
- W2000597658 hasAuthorship W2000597658A5043102686 @default.
- W2000597658 hasAuthorship W2000597658A5051560721 @default.
- W2000597658 hasAuthorship W2000597658A5058990785 @default.
- W2000597658 hasAuthorship W2000597658A5075880630 @default.
- W2000597658 hasBestOaLocation W20005976581 @default.
- W2000597658 hasConcept C104317684 @default.
- W2000597658 hasConcept C127716648 @default.
- W2000597658 hasConcept C36823959 @default.
- W2000597658 hasConcept C501734568 @default.
- W2000597658 hasConcept C54355233 @default.
- W2000597658 hasConcept C71924100 @default.
- W2000597658 hasConcept C86803240 @default.
- W2000597658 hasConceptScore W2000597658C104317684 @default.
- W2000597658 hasConceptScore W2000597658C127716648 @default.
- W2000597658 hasConceptScore W2000597658C36823959 @default.
- W2000597658 hasConceptScore W2000597658C501734568 @default.
- W2000597658 hasConceptScore W2000597658C54355233 @default.
- W2000597658 hasConceptScore W2000597658C71924100 @default.
- W2000597658 hasConceptScore W2000597658C86803240 @default.
- W2000597658 hasIssue "6" @default.
- W2000597658 hasLocation W20005976581 @default.
- W2000597658 hasLocation W20005976582 @default.
- W2000597658 hasLocation W20005976583 @default.
- W2000597658 hasLocation W20005976584 @default.
- W2000597658 hasOpenAccess W2000597658 @default.
- W2000597658 hasPrimaryLocation W20005976581 @default.
- W2000597658 hasRelatedWork W2015388398 @default.
- W2000597658 hasRelatedWork W2025851750 @default.
- W2000597658 hasRelatedWork W2039352533 @default.
- W2000597658 hasRelatedWork W2060169551 @default.
- W2000597658 hasRelatedWork W2068932327 @default.
- W2000597658 hasRelatedWork W2143066563 @default.
- W2000597658 hasRelatedWork W2157166663 @default.
- W2000597658 hasRelatedWork W2168467210 @default.
- W2000597658 hasRelatedWork W2417766600 @default.
- W2000597658 hasRelatedWork W3092216457 @default.
- W2000597658 hasVolume "1" @default.
- W2000597658 isParatext "false" @default.
- W2000597658 isRetracted "false" @default.
- W2000597658 magId "2000597658" @default.
- W2000597658 workType "article" @default.