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Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome

Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities. Case report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hyp...

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Hauptverfasser: Wei Shin Chou, Jia Shing Chen, Yu Ming Shiao, Ju Chin Tsauer, Yi Fen Chang, Ching Hua Hsiao
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2022-05-01
Schriftenreihe:Taiwanese Journal of Obstetrics & Gynecology
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Online-Zugang:http://www.sciencedirect.com/science/article/pii/S1028455922000882
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