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Article

Avoiding transmitting identified mutations to offspring using preimplantation genetic diagnosis.

Obstetrics and gynecology - 1 Feb 2010

Smith Laura P, Hughes Mark R, Thirumoorthi Ilango, Proud Virginia K, Penzias Alan S

Abstract excerpt

BACKGROUND: Preimplantation genetic diagnosis has been used to decrease or avoid the risk of transmitting identified mutations to offspring. CASE: A 29-year-old woman with spondyloepiphyseal dysplasia congenita and her 30-year-old husband with Marfan syndrome underwent in vitro fertilization with...

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PMID: 20093880
DOI: 10.1097/AOG.0b013e3181c9b316

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20093880-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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