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Treacher Collins Syndrome with a Novel Deletion in the TCOF1 Gene

Treacher Collins syndrome (TCS) is a rare autosomal dominant congenital disorder characterized by various craniofacial malformations. The estimated incidence is 1 in 50000 live births. Bilaterally symmetric anomalies of the structure are present within the first and second branchial arches. Characte...

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Autors principals: Büşra Eser Çavdartepe, Nadir Koçak, Nafiz Yaşa, Tülin Çora
Format: Artigo
Idioma:Inglês
Publicat: KARE Publishing 2019-03-01
Col·lecció:Erciyes Medical Journal
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Accés en línia:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=erciyesmedj&un=EMJ-62144
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