Microarray and RASopathy-disorder testing in fetuses with increased nuchal translucency.

作者: P. Sinajon , D. Chitayat , M. Roifman , S. Wasim , S. Carmona

DOI: 10.1002/UOG.20352

关键词:

摘要: … The detection rate of a pathogenic variant by RASopathy-disorder testing was 2.9%. We present a diagnostic and imaging protocol for surveillance of pregnancies with NT ≥ 3.5 mm. …

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