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- W2073054518 abstract "Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect. In order to learn more about possible genetic causes, we reviewed and classified 203 cases of the Bochdalek hernia type identified through the Brigham and Women's Hospital (BWH) Active Malformation Surveillance Program over a 28-year period. Phenotypically, 55% of the cases had isolated CDH, and 45% had complex CDH defined as CDH in association with additional major malformations or as part of a syndrome. When classified according to likely etiology, 17% had a Recognized Genetic etiology for their CDH, while the remaining 83% had No Apparent Genetic etiology. Detailed analysis using this largest cohort of consecutively collected cases of CDH showed low precurrence among siblings. Additionally, there was no concordance for CDH among five monozygotic twin pairs. These findings, in conjunction with previous reports of de novo dominant mutations in patients with CDH, suggest that new mutations may be an important mechanism responsible for CDH. The twin data also raise the possibility that epigenetic abnormalities contribute to the development of CDH. © 2005 Wiley-Liss, Inc." @default.
- W2073054518 created "2016-06-24" @default.
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- W2073054518 date "2005-01-01" @default.
- W2073054518 modified "2023-10-12" @default.
- W2073054518 title "Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program" @default.
- W2073054518 cites W1567081465 @default.
- W2073054518 cites W1604146287 @default.
- W2073054518 cites W1799031286 @default.
- W2073054518 cites W1963897128 @default.
- W2073054518 cites W1965210746 @default.
- W2073054518 cites W1969189681 @default.
- W2073054518 cites W1970456693 @default.
- W2073054518 cites W1970798274 @default.
- W2073054518 cites W1973934435 @default.
- W2073054518 cites W1974217598 @default.
- W2073054518 cites W1977099353 @default.
- W2073054518 cites W1979979272 @default.
- W2073054518 cites W1980488349 @default.
- W2073054518 cites W1981017572 @default.
- W2073054518 cites W198154834 @default.
- W2073054518 cites W1983003413 @default.
- W2073054518 cites W1983228128 @default.
- W2073054518 cites W1985667344 @default.
- W2073054518 cites W1985928359 @default.
- W2073054518 cites W1989795189 @default.
- W2073054518 cites W1989921361 @default.
- W2073054518 cites W1990438518 @default.
- W2073054518 cites W1991387767 @default.
- W2073054518 cites W1991783861 @default.
- W2073054518 cites W2000879361 @default.
- W2073054518 cites W2002909775 @default.
- W2073054518 cites W2008691101 @default.
- W2073054518 cites W2014584318 @default.
- W2073054518 cites W2016860874 @default.
- W2073054518 cites W2019420243 @default.
- W2073054518 cites W2020059917 @default.
- W2073054518 cites W2020446401 @default.
- W2073054518 cites W2020472841 @default.
- W2073054518 cites W2023097863 @default.
- W2073054518 cites W2026141970 @default.
- W2073054518 cites W2027915262 @default.
- W2073054518 cites W2031597554 @default.
- W2073054518 cites W2032789213 @default.
- W2073054518 cites W2033761156 @default.
- W2073054518 cites W2035757354 @default.
- W2073054518 cites W2038976967 @default.
- W2073054518 cites W2039879241 @default.
- W2073054518 cites W2043835385 @default.
- W2073054518 cites W2047321104 @default.
- W2073054518 cites W2054944680 @default.
- W2073054518 cites W2056954615 @default.
- W2073054518 cites W2061241947 @default.
- W2073054518 cites W2061972261 @default.
- W2073054518 cites W2065246812 @default.
- W2073054518 cites W2067121969 @default.
- W2073054518 cites W2068222389 @default.
- W2073054518 cites W2070046580 @default.
- W2073054518 cites W2070260383 @default.
- W2073054518 cites W2075369433 @default.
- W2073054518 cites W2077751281 @default.
- W2073054518 cites W2079829377 @default.
- W2073054518 cites W2079854362 @default.
- W2073054518 cites W2081088410 @default.
- W2073054518 cites W2083112790 @default.
- W2073054518 cites W2088491872 @default.
- W2073054518 cites W2095374870 @default.
- W2073054518 cites W2096154104 @default.
- W2073054518 cites W2100281180 @default.
- W2073054518 cites W2103193176 @default.
- W2073054518 cites W2115273877 @default.
- W2073054518 cites W2117121254 @default.
- W2073054518 cites W2118522871 @default.
- W2073054518 cites W2120615109 @default.
- W2073054518 cites W2123474135 @default.
- W2073054518 cites W2126227082 @default.
- W2073054518 cites W2127739994 @default.
- W2073054518 cites W2131036795 @default.
- W2073054518 cites W2134160554 @default.
- W2073054518 cites W2136243502 @default.
- W2073054518 cites W2141548432 @default.
- W2073054518 cites W2147623970 @default.
- W2073054518 cites W2154966222 @default.
- W2073054518 cites W2164708265 @default.
- W2073054518 cites W2171099960 @default.
- W2073054518 cites W2312921076 @default.
- W2073054518 cites W2325266334 @default.
- W2073054518 cites W2409777899 @default.
- W2073054518 cites W2415731064 @default.