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CtIP Mutations Cause Seckel and Jawad Syndromes
Qvist, Per; Huertas Sánchez, Pablo; Jimeno González, Sonia; Nyegaard, Mette; Hassan, Muhammad J.; Jackson, Stephen P. (Public Library of Science, 2011)Seckel syndrome is a recessively inherited dwarfism disorder characterized by microcephaly and a unique head profile. ...