Article
Phenotype and natural history in Marshall-Smith syndrome.
American journal of medical genetics. Part A - 1 Nov 2010
Shaw Adam C, van Balkom Inge D C, Bauer Mislen, Cole Trevor R P, Delrue Marie-Ange, Van Haeringen Arie, Holmberg Eva, Knight Samantha J L, Mortier Geert, Nampoothiri Sheela, Pušeljić Silvija, Zenker Martin, Cormier-Daire Valerie, Hennekam Raoul C M
Abstract excerpt
Marshall-Smith syndrome (MSS) is a distinctive entity of unknown etiology with fewer than 50 patients described in the medical literature to date. Through an International collaboration and use of an online wiki to facilitate data collection and sharing, we further delineate the phenotype and natural history of this syndrome. We present 15 new patients, the oldest being 30 years, provide an update on four...
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