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Autor:
David A. Dyment, Judith St-Onge, A. Albanese, Sylvie Manouvrier, S. Garcia, Jean-Baptiste Rivière, Corinne Vigouroux, Delphine Héron, Sahar Mansour, Cynthia J. Curry, Paul Kuentz, D. Delesalle, Leah Slattery, B.L. Luyer, Laurence Faivre, C. Thauvin-Robinet, T. Claudi, Sylvie Odent, Grace Yoon, Frédéric Huet, Jonathan A. Bernstein, S. Mo, Susan M. White, M.-L. Nunes, C. Fagour, Pierre Bitoun, Magali Avila, Sara L. Sawyer, A.M. Innes, Ute Moog, A.A. Lopez, Pål R. Njølstad, Jeanne Amiel, M. Laville, Y. Reznik, Olivier Lascols, Dominique Martin, Martine Le Merrer, Julien Thevenon, Brian Hy Chung, Michèle Mathieu-Dramard, Jørn V. Sagen, Rebekah Jobling, Christine Binquet, Rainer König
Publikováno v:
Clinical Genetics. 89:501-506
SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have