Associated Papers
De novo ALX4 variant detected in child with non-syndromic craniosynostosis.
Fonteles CS et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2021
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
Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.
Heuzé Y et al.
Current Genetic Medicine Reports, 2014
Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.
Shen H et al.
Plos One, 2013
23577066 (PubMed )
Supplement: pone.0059494.s008.pdf
Saethre-Chotzen syndrome: a case report.
Peña WA et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2010
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2007
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
Seto ML et al.
American Journal of Medical Genetics. Part A, 2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2006
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