Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature
Author:
Funder
BMBF
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference15 articles.
1. Mutations of the TWIST gene in the Saethre–Chotzen syndrome;el Ghouzzi;Nat. Genet.,1997
2. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre–Chotzen syndrome;Howard;Nat. Genet.,1997
3. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1;Johnson;Am. J. Hum. Genet.,1998
4. Clinical and genetic analysis of patients with Saethre–Chotzen syndrome;de Heer;Plast. Reconstr. Surg.,2005
5. Increased risk for developmental delay in Saethre–Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening;Cai;Hum. Genet.,2003
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1. Surgical Management of Craniosynostosis—Between the Past and the Future: A Comprehensive Review of the Literature;Journal of Pediatric Neurology;2023-04-10
2. Saethre-Chotzen syndrome: Case report and literature review;Dental and Medical Problems;2018-06-30
3. Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling;Journal of Applied Genetics;2018-02-01
4. Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9;Congenital Anomalies;2017-05-02
5. Tyrosine kinase receptor c-ros-oncogene 1 mediates TWIST-1 regulation of human mesenchymal stem cell lineage commitment;Bone;2017-01
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