Article
Mutations in BMPR2 are not present in patients with pulmonary hypertension associated with congenital diaphragmatic hernia.
Journal of pediatric surgery - 1 Nov 2017
Chiu Joanne S, Ma Lijiang, Wynn Julia, Krishnan Usha, Rosenzweig Erika B, Aspelund Gudrun, Arkovitz Marc, Warner Brad W, Lim Foong-Yen, Mychaliska George B, Azarow Kenneth, Cusick Robert A, Chung Dai H, Chung Wendy K
Abstract excerpt
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a prevalent major congenital anomaly with significant morbidity and mortality. Thirty to 40% mortality in CDH is largely attributed to pulmonary hypoplasia and pulmonary hypertension (PH). We hypothesized that the underlying genetic risk factors for hereditary PH are shared with CDH associated PH. METHODS: Participants were recruited as part of the...
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