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Article

Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation.

Fertility and sterility - 1 Apr 2007

Kirwin Susan M, Vinette Kathy M, Schwartz Sharon B, Funanage Vicky L, Gonzalez Iris L

Abstract excerpt

OBJECTIVE: To report recurrent transmissions of Barth syndrome through a single oocyte donor carrying a de novo TAZ mutation. DESIGN: Case report. SETTING: Clinical molecular diagnostics laboratory. PATIENT(S): Oocyte donor and individuals conceived with her oocytes. INTERVENTION(S): Molecular testing. MAIN OUTCOME MEASURE(S): Detection of TAZ mutation. RESULT(S): Multiple individuals affected with Barth syndrome...

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Identifiers

PMID: 17241629
DOI: 10.1016/j.fertnstert.2006.07.1543

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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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