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Parry D, Logan C, Stegmann AA, Abdelhamed Z, Calder A, Khan S, Bonthron D, Clowes V, Sheridan E, Ghali N, Chudley A, Dobbie A, Stumpel CRM, Johnson C. SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid. The American Journal of Human Genetics. 2013 Dec;93(6):1135–42. doi: 10.1016/j.ajhg.2013.10.027. |