Saethre-chotzen Syndrome
What's New
Last Posted: Aug 02, 2024
- Genetic Heterogeneity, Craniofacial Surgical Burden, and Surgical Techniques in Patients With Saethre-Chotzen Syndrome.
Dominic J Romeo, et al. The Journal of craniofacial surgery 2024 0 - A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Lee Eric, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 0 (9) 1061-1068 - Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome.
Kilcoyne Sarah, et al. The Journal of craniofacial surgery 2019 0 (5) 1506-1511 - Nonsyndromic craniosynostosis: novel coding variants.
Sewda Anshuman, et al. Pediatric research 2019 0 (4) 463-468 - Clinical and genetic characteristics of craniosynostosis in Hungary.
Bessenyei Beáta, et al. American journal of medical genetics. Part A 2015 8 - Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Paumard-Hernández Beatriz, et al. European journal of human genetics : EJHG 2015 7 (7) 907-14 - Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur Banu G, et al. Pediatric neurology 2014 5 (5) 482-90 - Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Sharma VP, et al. Nature genetics 2013 1 - Saethre-Chotzen syndrome
From NCATS Genetic and Rare Diseases Information Center
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- Page last reviewed:Feb 1, 2024
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