Article
Further delineation of Malan syndrome.
Human mutation - 1 Sept 2018
Priolo Manuela, Schanze Denny, Tatton-Brown Katrin, Mulder Paul A, Tenorio Jair, Kooblall Kreepa, Acero Inés Hernández, Alkuraya Fowzan S, Arias Pedro, Bernardini Laura, Bijlsma Emilia K, Cole Trevor, Coubes Christine, Dapia Irene, Davies Sally, Di Donato Nataliya, Elcioglu Nursel H, Fahrner Jill A, Foster Alison, González Noelia García, Huber Ilka, Iascone Maria, Kaiser Ann-Sophie, Kamath Arveen, Liebelt Jan, Lynch Sally Ann, Maas Saskia M, Mammì Corrado, Mathijssen Inge B, McKee Shane, Menke Leonie A, Mirzaa Ghayda M, Montgomery Tara, Neubauer Dorothee, Neumann Thomas E, Pintomalli Letizia, Pisanti Maria Antonietta, Plomp Astrid S, Price Sue, Salter Claire, Santos-Simarro Fernando, Sarda Pierre, Segovia Mabel, Shaw-Smith Charles, Smithson Sarah, Suri Mohnish, Valdez Rita Maria, Van Haeringen Arie, Van Hagen Johanna M, Zollino Marcela, Lapunzina Pablo, Thakker Rajesh V, Zenker Martin, Hennekam Raoul C
Abstract excerpt
Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood...
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