Matches in SemOpenAlex for { <https://semopenalex.org/work/W755352387> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W755352387 endingPage "405" @default.
- W755352387 startingPage "400" @default.
- W755352387 abstract "We report on a 3-year-old male with intellectual disability (ID), characteristic facial features, polydactyly and epilepsy carrying a paternally inherited 3q28 deletion of 1.9 Mb. The father, carrying the same deletion, presents with cleft palate, nail dystrophy and learning difficulties. The deleted region in this family is one of the smallest so far reported among genomic deletions affecting 3q27-3q28 for which some phenotypic descriptions are available. In particular, since the phenotype of our proband is strikingly similar to that previously described in a patient with a 9.3 Mb deletion, the deletion identified in this report contributes to the definition of the molecular boundaries of a genomic region responsible for a distinct clinical phenotype. Within the deleted interval there are 9 annotated genes, including TP63. Gain of function mutations of TP63 are known to be responsible for a group of conditions with distal limb and ectodermal involvement, such as ADULT, EEC, LMS, and SHFM4 syndromes. Interestingly, our cases demonstrate a milder phenotypic effect for loss of function of this gene." @default.
- W755352387 created "2016-06-24" @default.
- W755352387 creator A5009654638 @default.
- W755352387 creator A5020769869 @default.
- W755352387 creator A5023451940 @default.
- W755352387 creator A5054343486 @default.
- W755352387 creator A5065837074 @default.
- W755352387 creator A5066360031 @default.
- W755352387 date "2015-08-01" @default.
- W755352387 modified "2023-10-18" @default.
- W755352387 title "Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype" @default.
- W755352387 cites W1566720158 @default.
- W755352387 cites W1980121404 @default.
- W755352387 cites W1990286411 @default.
- W755352387 cites W1994177384 @default.
- W755352387 cites W1998160288 @default.
- W755352387 cites W2000663601 @default.
- W755352387 cites W2000854021 @default.
- W755352387 cites W2008250073 @default.
- W755352387 cites W2011175007 @default.
- W755352387 cites W2012911382 @default.
- W755352387 cites W2016840856 @default.
- W755352387 cites W2023517019 @default.
- W755352387 cites W2028896791 @default.
- W755352387 cites W2031708133 @default.
- W755352387 cites W2038081789 @default.
- W755352387 cites W2039802763 @default.
- W755352387 cites W2055430412 @default.
- W755352387 cites W2063989452 @default.
- W755352387 cites W2110105653 @default.
- W755352387 cites W2111045447 @default.
- W755352387 cites W2137987108 @default.
- W755352387 cites W2138625258 @default.
- W755352387 cites W2146823685 @default.
- W755352387 cites W2147076649 @default.
- W755352387 cites W2149997622 @default.
- W755352387 cites W2170664620 @default.
- W755352387 doi "https://doi.org/10.1016/j.ejmg.2015.06.001" @default.
- W755352387 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26117585" @default.
- W755352387 hasPublicationYear "2015" @default.
- W755352387 type Work @default.
- W755352387 sameAs 755352387 @default.
- W755352387 citedByCount "4" @default.
- W755352387 countsByYear W7553523872017 @default.
- W755352387 countsByYear W7553523872018 @default.
- W755352387 countsByYear W7553523872019 @default.
- W755352387 countsByYear W7553523872020 @default.
- W755352387 crossrefType "journal-article" @default.
- W755352387 hasAuthorship W755352387A5009654638 @default.
- W755352387 hasAuthorship W755352387A5020769869 @default.
- W755352387 hasAuthorship W755352387A5023451940 @default.
- W755352387 hasAuthorship W755352387A5054343486 @default.
- W755352387 hasAuthorship W755352387A5065837074 @default.
- W755352387 hasAuthorship W755352387A5066360031 @default.
- W755352387 hasConcept C104317684 @default.
- W755352387 hasConcept C105951970 @default.
- W755352387 hasConcept C127716648 @default.
- W755352387 hasConcept C188997412 @default.
- W755352387 hasConcept C2776984250 @default.
- W755352387 hasConcept C501734568 @default.
- W755352387 hasConcept C54355233 @default.
- W755352387 hasConcept C551499885 @default.
- W755352387 hasConcept C68838962 @default.
- W755352387 hasConcept C86803240 @default.
- W755352387 hasConcept C92811239 @default.
- W755352387 hasConceptScore W755352387C104317684 @default.
- W755352387 hasConceptScore W755352387C105951970 @default.
- W755352387 hasConceptScore W755352387C127716648 @default.
- W755352387 hasConceptScore W755352387C188997412 @default.
- W755352387 hasConceptScore W755352387C2776984250 @default.
- W755352387 hasConceptScore W755352387C501734568 @default.
- W755352387 hasConceptScore W755352387C54355233 @default.
- W755352387 hasConceptScore W755352387C551499885 @default.
- W755352387 hasConceptScore W755352387C68838962 @default.
- W755352387 hasConceptScore W755352387C86803240 @default.
- W755352387 hasConceptScore W755352387C92811239 @default.
- W755352387 hasIssue "8" @default.
- W755352387 hasLocation W7553523871 @default.
- W755352387 hasLocation W7553523872 @default.
- W755352387 hasOpenAccess W755352387 @default.
- W755352387 hasPrimaryLocation W7553523871 @default.
- W755352387 hasRelatedWork W1768599839 @default.
- W755352387 hasRelatedWork W2125731289 @default.
- W755352387 hasRelatedWork W2149447718 @default.
- W755352387 hasRelatedWork W2157166663 @default.
- W755352387 hasRelatedWork W2171449998 @default.
- W755352387 hasRelatedWork W3032357680 @default.
- W755352387 hasRelatedWork W3033608749 @default.
- W755352387 hasRelatedWork W3168184408 @default.
- W755352387 hasRelatedWork W3200785218 @default.
- W755352387 hasRelatedWork W755352387 @default.
- W755352387 hasVolume "58" @default.
- W755352387 isParatext "false" @default.
- W755352387 isRetracted "false" @default.
- W755352387 magId "755352387" @default.
- W755352387 workType "article" @default.