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Article

A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data.

American journal of medical genetics. Part A - 1 Sept 2014

Langlois Peter H, Moffitt Karen B, Scheuerle Angela E

Abstract excerpt

Since 1983, several authors have used panels of "sentinel" congenital anomalies that might serve as indicators of the human genome mutation rate. The current study suggests a considerably updated panel, and applies it to public health birth defects registry data to determine the potential number of de novo cases. Data were taken from deliveries in 1999-2009 from the Texas Birth Defects Registry, an active...

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PMID: 24917548
DOI: 10.1002/ajmg.a.36623

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