Associated Papers
An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.
Chen RZ et al.
Scientific Reports, 2020
The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome.
Foo R et al.
Plastic and Reconstructive Surgery, 2009
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 2008
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
Kress W et al.
European Journal of Human Genetics : Ejhg, 2006
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome.
Cai J et al.
Clinical Genetics, 2003
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
Paznekas WA et al.
American Journal of Human Genetics, 1998
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.
Rose CS et al.
Human Molecular Genetics, 1997
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