Matches in SemOpenAlex for { <https://semopenalex.org/work/W4311307375> ?p ?o ?g. }
Showing items 1 to 87 of
87
with 100 items per page.
- W4311307375 endingPage "148" @default.
- W4311307375 startingPage "144" @default.
- W4311307375 abstract "17q12 deletion syndrome causes developmental abnormalities of the kidneys, pancreas, genital tract, and neurodevelopment, and it has a wide range of phenotypes ranging from fetal demise to normal adulthood with minimal renal impairment. Here we describe a rare case of 17q12 deletion diagnosed prenatally, complicated by anhydramnios and Potter sequence. The baby was born but necessitated life-saving interventions due to pulmonary and renal insufficiency and ultimately succumbed to multi-organ failure. We present full autopsy results describing findings linked to 17q12 deletion, including severe bilateral multicystic renal dysplasia, pancreatic hypoplasia, and cysts adjacent to the Fallopian tubes. We also describe pulmonary hypoplasia and Potter facies as consequences of anhydramnios. We correlate these findings to our current understanding of molecular signals altered by 17q12 deletion, notably affecting HNF1B and LHX1 genes, which are known to mediate renal and genitourinary tract development." @default.
- W4311307375 created "2022-12-25" @default.
- W4311307375 creator A5014383378 @default.
- W4311307375 creator A5079274820 @default.
- W4311307375 creator A5090422201 @default.
- W4311307375 date "2022-12-13" @default.
- W4311307375 modified "2023-10-16" @default.
- W4311307375 title "Potter Deformation Sequence Caused by 17q12 Deletion: A Lethal Constellation" @default.
- W4311307375 cites W1500101676 @default.
- W4311307375 cites W1978561049 @default.
- W4311307375 cites W2018596421 @default.
- W4311307375 cites W2020189936 @default.
- W4311307375 cites W2029457763 @default.
- W4311307375 cites W2029678419 @default.
- W4311307375 cites W2037976498 @default.
- W4311307375 cites W2094145003 @default.
- W4311307375 cites W2110349807 @default.
- W4311307375 cites W2125666652 @default.
- W4311307375 cites W2143651958 @default.
- W4311307375 cites W2152985924 @default.
- W4311307375 cites W2406282168 @default.
- W4311307375 cites W2466526019 @default.
- W4311307375 cites W2910473566 @default.
- W4311307375 cites W2971983482 @default.
- W4311307375 cites W3134440229 @default.
- W4311307375 cites W3135783795 @default.
- W4311307375 cites W3137055902 @default.
- W4311307375 cites W3138441342 @default.
- W4311307375 cites W3158160029 @default.
- W4311307375 cites W746678661 @default.
- W4311307375 doi "https://doi.org/10.1177/10935266221139341" @default.
- W4311307375 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36513606" @default.
- W4311307375 hasPublicationYear "2022" @default.
- W4311307375 type Work @default.
- W4311307375 citedByCount "1" @default.
- W4311307375 countsByYear W43113073752023 @default.
- W4311307375 crossrefType "journal-article" @default.
- W4311307375 hasAuthorship W4311307375A5014383378 @default.
- W4311307375 hasAuthorship W4311307375A5079274820 @default.
- W4311307375 hasAuthorship W4311307375A5090422201 @default.
- W4311307375 hasConcept C104317684 @default.
- W4311307375 hasConcept C105702510 @default.
- W4311307375 hasConcept C127716648 @default.
- W4311307375 hasConcept C133507102 @default.
- W4311307375 hasConcept C134018914 @default.
- W4311307375 hasConcept C142724271 @default.
- W4311307375 hasConcept C2779504383 @default.
- W4311307375 hasConcept C2780091579 @default.
- W4311307375 hasConcept C2780327212 @default.
- W4311307375 hasConcept C2910137039 @default.
- W4311307375 hasConcept C54355233 @default.
- W4311307375 hasConcept C71924100 @default.
- W4311307375 hasConcept C86803240 @default.
- W4311307375 hasConceptScore W4311307375C104317684 @default.
- W4311307375 hasConceptScore W4311307375C105702510 @default.
- W4311307375 hasConceptScore W4311307375C127716648 @default.
- W4311307375 hasConceptScore W4311307375C133507102 @default.
- W4311307375 hasConceptScore W4311307375C134018914 @default.
- W4311307375 hasConceptScore W4311307375C142724271 @default.
- W4311307375 hasConceptScore W4311307375C2779504383 @default.
- W4311307375 hasConceptScore W4311307375C2780091579 @default.
- W4311307375 hasConceptScore W4311307375C2780327212 @default.
- W4311307375 hasConceptScore W4311307375C2910137039 @default.
- W4311307375 hasConceptScore W4311307375C54355233 @default.
- W4311307375 hasConceptScore W4311307375C71924100 @default.
- W4311307375 hasConceptScore W4311307375C86803240 @default.
- W4311307375 hasIssue "2" @default.
- W4311307375 hasLocation W43113073751 @default.
- W4311307375 hasLocation W43113073752 @default.
- W4311307375 hasOpenAccess W4311307375 @default.
- W4311307375 hasPrimaryLocation W43113073751 @default.
- W4311307375 hasRelatedWork W2007330428 @default.
- W4311307375 hasRelatedWork W2074637283 @default.
- W4311307375 hasRelatedWork W2077227519 @default.
- W4311307375 hasRelatedWork W2078559418 @default.
- W4311307375 hasRelatedWork W2181685550 @default.
- W4311307375 hasRelatedWork W2433393648 @default.
- W4311307375 hasRelatedWork W2433581994 @default.
- W4311307375 hasRelatedWork W295220173 @default.
- W4311307375 hasRelatedWork W4233481465 @default.
- W4311307375 hasRelatedWork W4364381677 @default.
- W4311307375 hasVolume "26" @default.
- W4311307375 isParatext "false" @default.
- W4311307375 isRetracted "false" @default.
- W4311307375 workType "article" @default.