Singleton-Merten Syndrome 1
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References
Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, Rice GI, Erlandsen H, Kehl HG, Thiele H, Nurnberg P, Hohne W, Crow YJ, Feigenbaum A, Hennekam RC. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015 Feb 5;96(2):275-82.
PubMedID: 25620204
Feigenbaum A, Muller C, Yale C, Kleinheinz J, Jezewski P, Kehl HG, MacDougall M, Rutsch F, Hennekam RC. Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. Am J Med Genet A. 2013 Feb;161A(2):360-70.
PubMedID: 23322711