Article
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
American journal of medical genetics. Part A - 1 Jan 2015
Giampietro Philip F, Armstrong Linlea, Stoddard Alex, Blank Robert D, Livingston Janet, Raggio Cathy L, Rasmussen Kristen, Pickart Michael, Lorier Rachel, Turner Amy, Sund Sarah, Sobrera Nara, Neptune Enid, Sweetser David, Santiago-Cornier Alberto, Broeckel Ulrich
Abstract excerpt
We report on a father and his two daughters diagnosed with Klippel-Feil syndrome (KFS) but with craniofacial differences (zygomatic and mandibular hypoplasia and cleft palate) and external ear abnormalities suggestive of Treacher Collins syndrome (TCS). The diagnosis of KFS was favored, given that the neck anomalies were the predominant manifestations, and that the diagnosis predated later recognition of the...
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