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