Matches in SemOpenAlex for { <https://semopenalex.org/work/W3094882983> ?p ?o ?g. }
- W3094882983 endingPage "145" @default.
- W3094882983 startingPage "125" @default.
- W3094882983 abstract "Beckwith–Wiedemann syndrome (BWS), originally characterized by the triad of omphalocele, macroglossia, and macrosomia has a population incidence estimated at 1/10,000–13,700. This is likely an underestimate, because individuals with milder phenotypes may not come to medical attention. Clinical features of Beckwith–Wiedemann syndrome are highly variable and may include hemihyperplasia, umbilical hernia, diastasis recti, embryonal tumors, cytomegaly of the fetal adrenal cortex, ear anomalies, visceromegaly, renal abnormalities, and neonatal hypoglycemia. Supportive findings may include polyhydramnios, pre-eclampsia, and prematurity, placentomegaly, cardiomegaly, and characteristic facies. The latter feature is more recognizable in early life and becomes less obvious over time. Beckwith–Wiedemann syndrome is a complex multigenic disorder caused by a variety of genomic and epigenomic alterations primarily affecting the expression of growth regulatory genes on chromosome 11p15. Isolated hemihyperplasia represents a distinct clinical diagnosis though some cases may, in fact, represent Beckwith–Wiedemann syndrome with reduced expressivity due to somatic mosaicism." @default.
- W3094882983 created "2020-11-09" @default.
- W3094882983 creator A5036444068 @default.
- W3094882983 creator A5077167420 @default.
- W3094882983 date "2020-10-30" @default.
- W3094882983 modified "2023-10-12" @default.
- W3094882983 title "BECKWITH–WIEDEMANN SYNDROME AND HEMIHYPERPLASIA" @default.
- W3094882983 cites W1492715146 @default.
- W3094882983 cites W1792592628 @default.
- W3094882983 cites W1883334036 @default.
- W3094882983 cites W1954772681 @default.
- W3094882983 cites W1959248353 @default.
- W3094882983 cites W1969034870 @default.
- W3094882983 cites W1969237332 @default.
- W3094882983 cites W1969245300 @default.
- W3094882983 cites W1975501413 @default.
- W3094882983 cites W1977061789 @default.
- W3094882983 cites W1977544678 @default.
- W3094882983 cites W1979391302 @default.
- W3094882983 cites W1987411147 @default.
- W3094882983 cites W1989763739 @default.
- W3094882983 cites W1994527262 @default.
- W3094882983 cites W2005772615 @default.
- W3094882983 cites W2009593757 @default.
- W3094882983 cites W2010050431 @default.
- W3094882983 cites W2011313235 @default.
- W3094882983 cites W2012589636 @default.
- W3094882983 cites W2016246425 @default.
- W3094882983 cites W2016293553 @default.
- W3094882983 cites W2020708296 @default.
- W3094882983 cites W2021903084 @default.
- W3094882983 cites W2022870376 @default.
- W3094882983 cites W2029173029 @default.
- W3094882983 cites W2030700241 @default.
- W3094882983 cites W2034067074 @default.
- W3094882983 cites W2034403814 @default.
- W3094882983 cites W2035028401 @default.
- W3094882983 cites W2035656617 @default.
- W3094882983 cites W2037782624 @default.
- W3094882983 cites W2038841326 @default.
- W3094882983 cites W2040157600 @default.
- W3094882983 cites W2040210345 @default.
- W3094882983 cites W2040225703 @default.
- W3094882983 cites W2040398382 @default.
- W3094882983 cites W2042644193 @default.
- W3094882983 cites W2043203820 @default.
- W3094882983 cites W2045116907 @default.
- W3094882983 cites W2046265451 @default.
- W3094882983 cites W2046908364 @default.
- W3094882983 cites W2048222359 @default.
- W3094882983 cites W2048424315 @default.
- W3094882983 cites W2051574088 @default.
- W3094882983 cites W2051677297 @default.
- W3094882983 cites W2051722709 @default.
- W3094882983 cites W2053330159 @default.
- W3094882983 cites W2057390527 @default.
- W3094882983 cites W2059259595 @default.
- W3094882983 cites W2065350889 @default.
- W3094882983 cites W2065666150 @default.
- W3094882983 cites W2067181747 @default.
- W3094882983 cites W2067536885 @default.
- W3094882983 cites W2072856126 @default.
- W3094882983 cites W2077470841 @default.
- W3094882983 cites W2079502033 @default.
- W3094882983 cites W2080501813 @default.
- W3094882983 cites W2081051387 @default.
- W3094882983 cites W2084610621 @default.
- W3094882983 cites W2090700730 @default.
- W3094882983 cites W2090701282 @default.
- W3094882983 cites W2098262110 @default.
- W3094882983 cites W2099689315 @default.
- W3094882983 cites W2103889681 @default.
- W3094882983 cites W2106926581 @default.
- W3094882983 cites W2107676306 @default.
- W3094882983 cites W2109051241 @default.
- W3094882983 cites W2114151547 @default.
- W3094882983 cites W2115023351 @default.
- W3094882983 cites W2116946202 @default.
- W3094882983 cites W2116972945 @default.
- W3094882983 cites W2117121254 @default.
- W3094882983 cites W2125827772 @default.
- W3094882983 cites W2126215730 @default.
- W3094882983 cites W2134465155 @default.
- W3094882983 cites W2138077028 @default.
- W3094882983 cites W2142260547 @default.
- W3094882983 cites W2145709837 @default.
- W3094882983 cites W2152466864 @default.
- W3094882983 cites W2161758931 @default.
- W3094882983 cites W2163657826 @default.
- W3094882983 cites W2167151107 @default.
- W3094882983 cites W2167858041 @default.
- W3094882983 cites W2168089202 @default.
- W3094882983 cites W2171787092 @default.
- W3094882983 cites W2207311753 @default.
- W3094882983 cites W2233865588 @default.
- W3094882983 cites W2290940702 @default.
- W3094882983 cites W2344739336 @default.
- W3094882983 cites W2375961688 @default.