FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3043304489> ?p ?o ?g. }

• W3043304489 abstract "We describe the case of a seven-year-old female patient who presented in our service with severe developmental delay, intellectual disability, facial dysmorphism and femur fracture, observed in the context of very low bone mineral density. Array-based single nucleotide polymorphism (SNP array) analysis identified a 113 kb duplication involving the morbid OMIM genes: ANKRD11 (exon1), RPL13 and PGN genes. ANKRD11 deletions are frequently described in association with KBG syndrome, the duplications being less frequent (one case described before). The exome sequencing was negative for pathogenic variants or of uncertain significance in genes possibly associated with this phenotype. The patient presented subtle signs of KBG syndrome. It is known that the phenotype of KBG syndrome has a wide clinical spectrum, this syndrome being often underdiagnosed due to overlapping features with other conditions, also characterised by multiple congenital anomalies and intellectual disability. The particularity of this case is represented by the very low bone mineral density in a patient with 16q24.3 duplication. ANKRD11 haploinsufficiency is known to be associated with skeletal involvement, such as short stature, or delayed bone age. An effect on bone density has been observed only in experimental studies on mice with induced missense mutations in the ANKRD11 gene. This CNV also involved the duplication of the very conserved RPL13 gene, which could have a role for the skeletal phenotype of this patient, knowing the high level of gene expression in bone tissue and also the association with spondyloepimetaphyseal dysplasia Isidor Toutain type, in case of splicing mutations." @default.
• W3043304489 created "2020-07-23" @default.
• W3043304489 creator A5003727513 @default.
• W3043304489 creator A5016906697 @default.
• W3043304489 creator A5018319124 @default.
• W3043304489 creator A5035457422 @default.
• W3043304489 creator A5049539522 @default.
• W3043304489 creator A5088014400 @default.
• W3043304489 date "2020-07-15" @default.
• W3043304489 modified "2023-10-06" @default.
• W3043304489 title "16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature" @default.
• W3043304489 cites W1514919670 @default.
• W3043304489 cites W1577953166 @default.
• W3043304489 cites W2025037657 @default.
• W3043304489 cites W2029420107 @default.
• W3043304489 cites W2041109137 @default.
• W3043304489 cites W2056668451 @default.
• W3043304489 cites W2060980059 @default.
• W3043304489 cites W2064627378 @default.
• W3043304489 cites W2070978649 @default.
• W3043304489 cites W2073277423 @default.
• W3043304489 cites W2081223695 @default.
• W3043304489 cites W2084118269 @default.
• W3043304489 cites W2093492282 @default.
• W3043304489 cites W2096578391 @default.
• W3043304489 cites W2110259345 @default.
• W3043304489 cites W2124424065 @default.
• W3043304489 cites W2127389237 @default.
• W3043304489 cites W2142300400 @default.
• W3043304489 cites W2149160101 @default.
• W3043304489 cites W2328102294 @default.
• W3043304489 cites W2492998196 @default.
• W3043304489 cites W2526838837 @default.
• W3043304489 cites W2605396479 @default.
• W3043304489 cites W2782895599 @default.
• W3043304489 cites W2910569319 @default.
• W3043304489 cites W2980434314 @default.
• W3043304489 cites W2992230042 @default.
• W3043304489 cites W3136918052 @default.
• W3043304489 cites W4248983276 @default.
• W3043304489 doi "https://doi.org/10.3389/fped.2020.00390" @default.
• W3043304489 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7373721" @default.
• W3043304489 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32760686" @default.
• W3043304489 hasPublicationYear "2020" @default.
• W3043304489 type Work @default.
• W3043304489 sameAs 3043304489 @default.
• W3043304489 citedByCount "6" @default.
• W3043304489 countsByYear W30433044892021 @default.
• W3043304489 countsByYear W30433044892022 @default.
• W3043304489 countsByYear W30433044892023 @default.
• W3043304489 crossrefType "journal-article" @default.
• W3043304489 hasAuthorship W3043304489A5003727513 @default.
• W3043304489 hasAuthorship W3043304489A5016906697 @default.
• W3043304489 hasAuthorship W3043304489A5018319124 @default.
• W3043304489 hasAuthorship W3043304489A5035457422 @default.
• W3043304489 hasAuthorship W3043304489A5049539522 @default.
• W3043304489 hasAuthorship W3043304489A5088014400 @default.
• W3043304489 hasBestOaLocation W30433044891 @default.
• W3043304489 hasConcept C104317684 @default.
• W3043304489 hasConcept C120821319 @default.
• W3043304489 hasConcept C126322002 @default.
• W3043304489 hasConcept C127716648 @default.
• W3043304489 hasConcept C141231307 @default.
• W3043304489 hasConcept C16671776 @default.
• W3043304489 hasConcept C187212893 @default.
• W3043304489 hasConcept C2777871287 @default.
• W3043304489 hasConcept C54355233 @default.
• W3043304489 hasConcept C551499885 @default.
• W3043304489 hasConcept C60644358 @default.
• W3043304489 hasConcept C68838962 @default.
• W3043304489 hasConcept C71924100 @default.
• W3043304489 hasConcept C75563809 @default.
• W3043304489 hasConcept C7602840 @default.
• W3043304489 hasConcept C86803240 @default.
• W3043304489 hasConcept C89551170 @default.
• W3043304489 hasConceptScore W3043304489C104317684 @default.
• W3043304489 hasConceptScore W3043304489C120821319 @default.
• W3043304489 hasConceptScore W3043304489C126322002 @default.
• W3043304489 hasConceptScore W3043304489C127716648 @default.
• W3043304489 hasConceptScore W3043304489C141231307 @default.
• W3043304489 hasConceptScore W3043304489C16671776 @default.
• W3043304489 hasConceptScore W3043304489C187212893 @default.
• W3043304489 hasConceptScore W3043304489C2777871287 @default.
• W3043304489 hasConceptScore W3043304489C54355233 @default.
• W3043304489 hasConceptScore W3043304489C551499885 @default.
• W3043304489 hasConceptScore W3043304489C60644358 @default.
• W3043304489 hasConceptScore W3043304489C68838962 @default.
• W3043304489 hasConceptScore W3043304489C71924100 @default.
• W3043304489 hasConceptScore W3043304489C75563809 @default.
• W3043304489 hasConceptScore W3043304489C7602840 @default.
• W3043304489 hasConceptScore W3043304489C86803240 @default.
• W3043304489 hasConceptScore W3043304489C89551170 @default.
• W3043304489 hasLocation W30433044891 @default.
• W3043304489 hasLocation W30433044892 @default.
• W3043304489 hasLocation W30433044893 @default.
• W3043304489 hasOpenAccess W3043304489 @default.
• W3043304489 hasPrimaryLocation W30433044891 @default.
• W3043304489 hasRelatedWork W1981596947 @default.
• W3043304489 hasRelatedWork W2041831812 @default.
• W3043304489 hasRelatedWork W2043199743 @default.

• next