Saethre-Chotzen syndrome
Definition:
References:
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[1]. Hélène Dollfus, et al. Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. Am J Med Genet. 2002 May 1;109(3):218-25. [Content Brief]
[2]. V El Ghouzzi, et al. Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. FEBS Lett. 2001 Mar 9;492(1-2):112-8. [Content Brief]
[3]. W A Paznekas, et al. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet. 1998 Jun;62(6):1370-80. [Content Brief]
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