Associated Papers
Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients.
Liu Z et al.
Molecular Genetics & Genomic Medicine, 2025
40353334 (PubMed )
Supplement: MGG3-13-e70106-s002.xlsx › Sheet1
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
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 2008
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.
El Ghouzzi V et al.
Human Molecular Genetics, 2000
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
El Ghouzzi V et al.
European Journal of Human Genetics : Ejhg, 1999
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
Paznekas WA et al.
American Journal of Human Genetics, 1998
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