Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome
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DOI: 10.1002/mgg3.1313
Abstract: Abstract Background Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance. It is still challenging to make a definite diagnosis for affected fetuses with… read more here.
Keywords: collins syndrome; genetics; deletion; deletion tcof1 ... See more keywords