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Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Désir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G. Basel-Vanagaite L, et al. Hum Genet. 2014 Jul;133(7):939-49. doi: 10.1007/s00439-014-1436-2. Epub 2014 Mar 11. Hum Genet. 2014. PMID: 24615390
First, we have identified UBE3B mutations in individuals who previously received distinct clinical diagnoses: two sibs with Toriello-Carey syndrome as well as the patient reported to have a "new" syndrome by Buntinx and Majewski in 1990. ...We review the UBE3 …
First, we have identified UBE3B mutations in individuals who previously received distinct clinical diagnoses: two sibs with Toriello- …
Further delineation of the Toriello-Carey syndrome: a report of two siblings.
Barisic I, Peter B, Mikecin L. Barisic I, et al. Am J Med Genet A. 2003 Jan 15;116A(2):188-91. doi: 10.1002/ajmg.a.10808. Am J Med Genet A. 2003. PMID: 12494442
Besides clinical findings typical for this condition, they showed additional traits, expanding further the phenotypic spectrum. A specific malformation pattern observed in the patients presented and, in the previously reported cases, suggests an early midline developmental …
Besides clinical findings typical for this condition, they showed additional traits, expanding further the phenotypic spectrum. A specific m …