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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.
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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Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 100083212
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; Jan2015, Vol. 167A Issue 1, p95-102, 8p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=100083212
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        Value: 10.1002/ajmg.a.36799
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      – Code: eng
        Text: English
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        PageCount: 8
        StartPage: 95
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      – TitleFull: 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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              Text: Jan2015
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              Value: 167A
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