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Article

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.

Clinical genetics - 1 Feb 2018

França M M, Funari M F A, Nishi M Y, Narcizo A M, Domenice S, Costa E M F, Lerario A M, Mendonca B B

Abstract excerpt

Targeted massively parallel sequencing (TMPS) has been used in genetic diagnosis for Mendelian disorders. In the past few years, the TMPS has identified new and already described genes associated with primary ovarian insufficiency (POI) phenotype. Here, we performed a targeted gene sequencing to find a genetic diagnosis in idiopathic cases of Brazilian POI cohort. A custom SureSelectXT DNA target enrichment panel...

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PMID: 29044499
DOI: 10.1111/cge.13156

Genes

GDF9

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