Associated Papers
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.
Chen J et al.
Frontiers in Genetics, 2022
36118902 (PubMed )
Supplement: DataSheet1.XLSX › TableS2
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
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Wilkie AO et al.
Pediatrics, 2010
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
Woods RH 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
A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.
Elanko N et al.
Human Mutation, 2001
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