Matches in SemOpenAlex for { <https://semopenalex.org/work/W2945181618> ?p ?o ?g. }
Showing items 1 to 99 of
99
with 100 items per page.
- W2945181618 endingPage "253" @default.
- W2945181618 startingPage "249" @default.
- W2945181618 abstract "Pallister-Killian mosaic syndrome (PKS) is a rare sporadic condition with multiple congenital anomalies and intellectual deficits caused by mosaic tissue-limited tetrasomy of the short arm of chromosome 12 (12p). The clinical features are highly variable, ranging from mild to severe. Diagnosis is usually missed because of the low level of mosaicism in peripheral lymphocytes. We present a case of an Omani newborn with PKS with severe clinical presentation and multisystem involvement that lead to postnatal death. Karyotype and fluorescent in situ hybridization studies confirmed the presence of chromosome 12p duplication. This is the first case of PKS reported in the literature from Oman and the Arab world." @default.
- W2945181618 created "2019-05-29" @default.
- W2945181618 creator A5011204081 @default.
- W2945181618 creator A5018022527 @default.
- W2945181618 creator A5026977023 @default.
- W2945181618 creator A5050476406 @default.
- W2945181618 creator A5061889704 @default.
- W2945181618 date "2019-05-19" @default.
- W2945181618 modified "2023-10-18" @default.
- W2945181618 title "Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review" @default.
- W2945181618 cites W133581458 @default.
- W2945181618 cites W1836261008 @default.
- W2945181618 cites W1945250247 @default.
- W2945181618 cites W1971334373 @default.
- W2945181618 cites W1973040999 @default.
- W2945181618 cites W1978644953 @default.
- W2945181618 cites W1994697284 @default.
- W2945181618 cites W2045108104 @default.
- W2945181618 cites W2093561063 @default.
- W2945181618 cites W2095796618 @default.
- W2945181618 cites W2114025708 @default.
- W2945181618 cites W2114511660 @default.
- W2945181618 cites W2159947879 @default.
- W2945181618 cites W2319590514 @default.
- W2945181618 cites W2336885941 @default.
- W2945181618 cites W2399236861 @default.
- W2945181618 cites W2417303501 @default.
- W2945181618 cites W2774766865 @default.
- W2945181618 cites W2777392019 @default.
- W2945181618 cites W984150607 @default.
- W2945181618 doi "https://doi.org/10.5001/omj.2019.47" @default.
- W2945181618 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6505352" @default.
- W2945181618 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31110634" @default.
- W2945181618 hasPublicationYear "2019" @default.
- W2945181618 type Work @default.
- W2945181618 sameAs 2945181618 @default.
- W2945181618 citedByCount "1" @default.
- W2945181618 countsByYear W29451816182021 @default.
- W2945181618 crossrefType "journal-article" @default.
- W2945181618 hasAuthorship W2945181618A5011204081 @default.
- W2945181618 hasAuthorship W2945181618A5018022527 @default.
- W2945181618 hasAuthorship W2945181618A5026977023 @default.
- W2945181618 hasAuthorship W2945181618A5050476406 @default.
- W2945181618 hasAuthorship W2945181618A5061889704 @default.
- W2945181618 hasBestOaLocation W29451816181 @default.
- W2945181618 hasConcept C104317684 @default.
- W2945181618 hasConcept C110739175 @default.
- W2945181618 hasConcept C131872663 @default.
- W2945181618 hasConcept C142724271 @default.
- W2945181618 hasConcept C166957645 @default.
- W2945181618 hasConcept C187212893 @default.
- W2945181618 hasConcept C2777542201 @default.
- W2945181618 hasConcept C2777601897 @default.
- W2945181618 hasConcept C2778249689 @default.
- W2945181618 hasConcept C30481170 @default.
- W2945181618 hasConcept C53226629 @default.
- W2945181618 hasConcept C54355233 @default.
- W2945181618 hasConcept C71924100 @default.
- W2945181618 hasConcept C86803240 @default.
- W2945181618 hasConcept C95457728 @default.
- W2945181618 hasConceptScore W2945181618C104317684 @default.
- W2945181618 hasConceptScore W2945181618C110739175 @default.
- W2945181618 hasConceptScore W2945181618C131872663 @default.
- W2945181618 hasConceptScore W2945181618C142724271 @default.
- W2945181618 hasConceptScore W2945181618C166957645 @default.
- W2945181618 hasConceptScore W2945181618C187212893 @default.
- W2945181618 hasConceptScore W2945181618C2777542201 @default.
- W2945181618 hasConceptScore W2945181618C2777601897 @default.
- W2945181618 hasConceptScore W2945181618C2778249689 @default.
- W2945181618 hasConceptScore W2945181618C30481170 @default.
- W2945181618 hasConceptScore W2945181618C53226629 @default.
- W2945181618 hasConceptScore W2945181618C54355233 @default.
- W2945181618 hasConceptScore W2945181618C71924100 @default.
- W2945181618 hasConceptScore W2945181618C86803240 @default.
- W2945181618 hasConceptScore W2945181618C95457728 @default.
- W2945181618 hasIssue "3" @default.
- W2945181618 hasLocation W29451816181 @default.
- W2945181618 hasLocation W29451816182 @default.
- W2945181618 hasLocation W29451816183 @default.
- W2945181618 hasLocation W29451816184 @default.
- W2945181618 hasOpenAccess W2945181618 @default.
- W2945181618 hasPrimaryLocation W29451816181 @default.
- W2945181618 hasRelatedWork W1502307568 @default.
- W2945181618 hasRelatedWork W168034938 @default.
- W2945181618 hasRelatedWork W1877616936 @default.
- W2945181618 hasRelatedWork W2015016618 @default.
- W2945181618 hasRelatedWork W2058230096 @default.
- W2945181618 hasRelatedWork W2059198109 @default.
- W2945181618 hasRelatedWork W2118727505 @default.
- W2945181618 hasRelatedWork W2355121570 @default.
- W2945181618 hasRelatedWork W2367579304 @default.
- W2945181618 hasRelatedWork W3024939118 @default.
- W2945181618 hasVolume "34" @default.
- W2945181618 isParatext "false" @default.
- W2945181618 isRetracted "false" @default.
- W2945181618 magId "2945181618" @default.
- W2945181618 workType "article" @default.