Matches in SemOpenAlex for { <https://semopenalex.org/work/W4383682021> ?p ?o ?g. }
- W4383682021 abstract "Abstract Background The protein phosphatase 2 (PP2A) is one of the major serine/threonine phosphatases in humans. The most frequently reported pathogenic PP2A variants have been identified in PPP2R5D , encoding the regulatory subunit B’ delta, and are known to cause intellectual developmental disorder autosomal dominant 35 (MRD35). Case presentation Herein, we describe a unique case of a patient with a heterozygous pathogenic variant, c.592G>A/p.(Glu198Lys) in the PPP2R5D gene which was associated with hyperpigmented skin lesions arising from increased melanin production, known as Café-au-lait macules (CALMs). To our knowledge, this is the first reported case of a PPP2R5D -related neurodevelopmental disorder associated with CALMs. Conclusions Our findings suggest that the documentation and reporting of CALMs when associated with one or more physical and/or neurodevelopmental findings are of utmost importance as they could be indicative of an underreported phenotype and may extend the phenotypic spectrum of MRD35." @default.
- W4383682021 created "2023-07-10" @default.
- W4383682021 creator A5023497933 @default.
- W4383682021 creator A5026269928 @default.
- W4383682021 creator A5042555330 @default.
- W4383682021 creator A5051631977 @default.
- W4383682021 creator A5092432139 @default.
- W4383682021 date "2023-07-10" @default.
- W4383682021 modified "2023-10-14" @default.
- W4383682021 title "A pigmentary manifestation associated with PPP2R5D-related neurodevelopmental disorder: a case report and review of literature" @default.
- W4383682021 cites W1538015091 @default.
- W4383682021 cites W1538536 @default.
- W4383682021 cites W1642473590 @default.
- W4383682021 cites W1964499404 @default.
- W4383682021 cites W1964566131 @default.
- W4383682021 cites W1965418027 @default.
- W4383682021 cites W1967780354 @default.
- W4383682021 cites W1971626394 @default.
- W4383682021 cites W1972811295 @default.
- W4383682021 cites W1974923921 @default.
- W4383682021 cites W1983475354 @default.
- W4383682021 cites W1990524154 @default.
- W4383682021 cites W1991727881 @default.
- W4383682021 cites W1992060900 @default.
- W4383682021 cites W2002663964 @default.
- W4383682021 cites W2009516619 @default.
- W4383682021 cites W2044481116 @default.
- W4383682021 cites W2046487040 @default.
- W4383682021 cites W2054292493 @default.
- W4383682021 cites W2055476265 @default.
- W4383682021 cites W2087216143 @default.
- W4383682021 cites W2091061305 @default.
- W4383682021 cites W2092581099 @default.
- W4383682021 cites W2101803513 @default.
- W4383682021 cites W2102290245 @default.
- W4383682021 cites W2112032347 @default.
- W4383682021 cites W2149348394 @default.
- W4383682021 cites W2150744768 @default.
- W4383682021 cites W2155642905 @default.
- W4383682021 cites W2166077873 @default.
- W4383682021 cites W2176043843 @default.
- W4383682021 cites W2302002701 @default.
- W4383682021 cites W2468992414 @default.
- W4383682021 cites W2521425287 @default.
- W4383682021 cites W2778440734 @default.
- W4383682021 cites W2809609078 @default.
- W4383682021 cites W2907720528 @default.
- W4383682021 cites W2943213066 @default.
- W4383682021 cites W2995656706 @default.
- W4383682021 cites W3005541957 @default.
- W4383682021 cites W3047389785 @default.
- W4383682021 cites W3093540679 @default.
- W4383682021 cites W3094493850 @default.
- W4383682021 cites W3110924918 @default.
- W4383682021 cites W3122782682 @default.
- W4383682021 cites W3154267041 @default.
- W4383682021 cites W3183841159 @default.
- W4383682021 cites W3191234109 @default.
- W4383682021 cites W3193550049 @default.
- W4383682021 cites W4304098265 @default.
- W4383682021 doi "https://doi.org/10.1186/s42269-023-01084-z" @default.
- W4383682021 hasPublicationYear "2023" @default.
- W4383682021 type Work @default.
- W4383682021 citedByCount "0" @default.
- W4383682021 crossrefType "journal-article" @default.
- W4383682021 hasAuthorship W4383682021A5023497933 @default.
- W4383682021 hasAuthorship W4383682021A5026269928 @default.
- W4383682021 hasAuthorship W4383682021A5042555330 @default.
- W4383682021 hasAuthorship W4383682021A5051631977 @default.
- W4383682021 hasAuthorship W4383682021A5092432139 @default.
- W4383682021 hasBestOaLocation W43836820211 @default.
- W4383682021 hasConcept C104292427 @default.
- W4383682021 hasConcept C104317684 @default.
- W4383682021 hasConcept C127716648 @default.
- W4383682021 hasConcept C2779388368 @default.
- W4383682021 hasConcept C389152 @default.
- W4383682021 hasConcept C54355233 @default.
- W4383682021 hasConcept C551499885 @default.
- W4383682021 hasConcept C71924100 @default.
- W4383682021 hasConcept C86803240 @default.
- W4383682021 hasConceptScore W4383682021C104292427 @default.
- W4383682021 hasConceptScore W4383682021C104317684 @default.
- W4383682021 hasConceptScore W4383682021C127716648 @default.
- W4383682021 hasConceptScore W4383682021C2779388368 @default.
- W4383682021 hasConceptScore W4383682021C389152 @default.
- W4383682021 hasConceptScore W4383682021C54355233 @default.
- W4383682021 hasConceptScore W4383682021C551499885 @default.
- W4383682021 hasConceptScore W4383682021C71924100 @default.
- W4383682021 hasConceptScore W4383682021C86803240 @default.
- W4383682021 hasFunder F4320314075 @default.
- W4383682021 hasIssue "1" @default.
- W4383682021 hasLocation W43836820211 @default.
- W4383682021 hasOpenAccess W4383682021 @default.
- W4383682021 hasPrimaryLocation W43836820211 @default.
- W4383682021 hasRelatedWork W138964897 @default.
- W4383682021 hasRelatedWork W1530402712 @default.
- W4383682021 hasRelatedWork W1946787458 @default.
- W4383682021 hasRelatedWork W2104622833 @default.
- W4383682021 hasRelatedWork W2143066563 @default.
- W4383682021 hasRelatedWork W2157166663 @default.