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Article

Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.

Congenital anomalies - 1 Jan 2019

Terasawa Sumire, Kato Asuka, Nishizawa Haruki, Kato Takema, Yoshizawa Hikari, Noda Yoshiteru, Miyazaki Jun, Ito Mayuko, Sekiya Takao, Fujii Takuma, Kurahashi Hiroki

Abstract excerpt

Thanatophoric dysplasia and achondroplasia are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because thanatophoric dysplasia is a lethal disorder and achondroplasia is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the...

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Source

Identifiers

PMID: 29542187
DOI: 10.1111/cga.12278

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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