| 1 | PDGFRB, PENTT
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| A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
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| Johnston JJ, Sanchez-Contreras MY, Keppler-Noreuil KM, Sapp J, Crenshaw M, Finch NA, Cormier-Daire V, Rademakers R, Sybert VP, Biesecker LG.
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| Am J Hum Genet 97(3):465-74. doi: 10.1016/j.ajhg.2015.07.009. Epub 2015 Aug 13.
2015
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| 2 | PENTT
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| Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.
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| Zufferey F, Hadj-Rabia S, De Sandre-Giovannoli A, Dufier JL, Leheup B, Schweitze C, Bodemer C, Cormier-Daire V, Le Merrer M.
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| Am J Med Genet A 161A(7):1786-91. doi: 10.1002/ajmg.a.35984. Epub 2013 May 29.
2013
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