Second-trimester molecular diagnosis of a heterozygous 742 --> T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings.

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作者信息

Chen C P, Chern S R, Wang W, Wang T Y

出版信息

Ultrasound Obstet Gynecol. 2001 Mar;17(3):272-3. doi: 10.1046/j.1469-0705.2001.00377.x.

DOI:10.1046/j.1469-0705.2001.00377.x

PMID:11309183

Abstract

摘要

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