Article
A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
American journal of medical genetics. Part A - 1 Dec 2012
Arrington Cammon B, Bleyl Steven B, Matsunami Nori, Bowles Neil E, Leppert Tami I, Demarest Bradley L, Osborne Karen, Yoder Bradley A, Byrne Janice L, Schiffman Joshua D, Null Donald M, DiGeronimo Robert, Rollins Michael, Faix Roger, Comstock Jessica, Camp Nicola J, Leppert Mark F, Yost H Joseph, Brunelli Luca
Abstract excerpt
Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that causes high newborn mortality. Isolated or non-syndromic CDH is considered a multifactorial disease, with strong evidence implicating genetic factors. As low heritability has been reported in isolated CDH, family-based genetic methods have yet to identify the genetic factors associated with the defect. Using the Utah Population...
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