Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome

Abstract Background Treacher Collins Ι syndrome (TCS1, OMIM:154500) is an autosomal dominant disease with a series of clinical manifestations such as craniofacial dysplasia including eye and ear abnormalities, small jaw deformity, cleft lip, as well as repeated respiratory tract infection and conduc...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Dan‐Yan Zhuang, Shu‐Ni Sun, Zhuo‐Jie Hu, Min Xie, Yu‐Xin Zhang, Lu‐Lu Yan, Jie‐Wen Pan, Hai‐bo Li
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Wiley 2024-03-01
Цуврал:	Molecular Genetics & Genomic Medicine
Нөхцлүүд:	craniofacial dysplasia novel variation TCOF1 Treacher Collins syndrome
Онлайн хандалт:	https://doi.org/10.1002/mgg3.2405
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!