Regular ArticleGenetic and Physical Mapping of the Treacher Collins Syndrome Locus with Respect to Loci in the Chromosome 5q3 Region
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Congenital Abnormalities of the Temporomandibular Joint
2018, Oral and Maxillofacial Surgery Clinics of North AmericaCitation Excerpt :Genetic counseling is recommended to discuss the issues of inheritance for affected family members.16 The gene for TCS has been mapped to chromosome 5q31.3 – q33.3.54,55 Application of genetic (linkage and haplotype analysis) and physical mapping (fluorescence in situ hybridization, cosmid and YAC contiguous construction) techniques suggests that the gene resides between the colony-stimulating factor receptor gene and the osteonectin gene on chromosome 5. 54,55
The surgical management of Treacher Collins syndrome
2014, British Journal of Oral and Maxillofacial SurgeryCitation Excerpt :Incidence is between 1 in 25 000 and 1 in 50 0009 and there is no sex predilection.11 The syndrome is linked to chromosome 5q32-q33.12 deletions in the TCOF1 gene encoding treacle protein.12 This causes a reduction in neural crest cells (NCC), which are needed for craniofacial embryological development through the role of treacle in ribosomal DNA gene transcription.13,14
Using Induced Pluripotent Stem Cells as a Tool to Understand Neurocristopathies
2014, Neural Crest Cells: Evolution, Development and DiseaseTreacher Collins Syndrome: Evaluation and Treatment
2013, Orthognathic Surgery: Principles and PracticeOrthognathic surgery for secondary cleft and craniofacial deformities
2005, Oral and Maxillofacial Surgery Clinics of North AmericaTreacher Collins syndrome: Comprehensive evaluation and treatment
2004, Oral and Maxillofacial Surgery Clinics of North America