Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference16 articles.
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2. Syndromes of the Head and Neck;Gorlin,2001
3. Smith's Recognizable Patterns of Human Malformation;Jones,1997
4. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome;Treacher Collins Collaborative Group;Nat Genet,1996
5. Novel mutation in the 5′ splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome;Marszalek;Am J Med Genet A,2003
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