Prenatal diagnostic approaches diagnosed craniosynostosis and identified a novel nonsense variant in SMAD6 in a Chinese fetus
Author:
Funder
National Key Research and Development Program of China
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference44 articles.
1. 2013. ACOG Practice bulletin no. 134: fetal growth restriction. Obstet Gynecol 121, 1122-1133.
2. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr. Protoc. Hum. Genet. Chapter,2013
3. Racial/ethnic standards for fetal growth: the NICHD Fetal Growth Studies;Buck Louis;Am. J. Obstet. Gynecol.,2015
4. SMAD6 variants in craniosynostosis: genotype and phenotype evaluation;Calpena;Genet. Med.,2020
5. Molecular mechanisms for the RNA-dependent ATPase activity of Upf1 and its regulation by Upf2;Chakrabarti;Mol. Cell,2011
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