View in EDS

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.

Saved in:
Bibliographic Details
Title: Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
Authors: Giampietro, Philip F.1, Armstrong, Linlea2, Stoddard, Alex3, Blank, Robert D.3, Livingston, Janet2, Raggio, Cathy L.4, Rasmussen, Kristen5, Pickart, Michael6, Lorier, Rachel3, Turner, Amy3, Sund, Sarah1, Sobrera, Nara7, Neptune, Enid7, Sweetser, David8, Santiago‐Cornier, Alberto9, Broeckel, Ulrich3
Source: American Journal of Medical Genetics. Part A; Jan2015, Vol. 167A Issue 1, p95-102, 8p
Database: Applied Science & Technology Source
Description
ISSN:15524825
DOI:10.1002/ajmg.a.36799