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Article

Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome.

Taiwanese journal of obstetrics & gynecology - 1 May 2022

Ou Tsung-Ying, Tsai Meng-Che, Kuo Pao-Lin, Lee Ni-Chung, Chou Yen-Yin

Abstract excerpt

OBJECTIVE: To demonstrate the picture of a woman who had three times of pregnancies but fetuses were complicated with Fraser syndrome, a rare genetic disorder with multiple congenital anomalies. CASE REPORT: Here are three complicated pregnancies with predominant features of severe oligohydramnios and other variable intrafamilial presentations. We made a definite diagnosis, Fraser syndrome, with the assistance of...

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Source

Identifiers

PMID: 35595450
DOI: 10.1016/j.tjog.2022.03.022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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