Mutations in IRF6 Do Not Cause Bartsocas-Papas Syndrome in a Family with Two Affected Sibs
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Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Leslie E, OSullivan J, Cunningham M, Singh A, Goudy S, Ababneh F Am J Med Genet A. 2015; 167A(3):545-52.
PMID: 25691407 PMC: 4423539. DOI: 10.1002/ajmg.a.36896.
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.
Mitchell K, OSullivan J, Missero C, Blair E, Richardson R, Anderson B Am J Hum Genet. 2011; 90(1):69-75.
PMID: 22197488 PMC: 3257958. DOI: 10.1016/j.ajhg.2011.11.013.
Rorick N, Kinoshita A, Weirather J, Peyrard-Janvid M, de Lima R, Dunnwald M Am J Med Genet A. 2011; 155A(6):1314-21.
PMID: 21574244 PMC: 3753799. DOI: 10.1002/ajmg.a.33980.