Detection of de novo genetic variants in Mayer-Rokitansky-Küster-Hauser syndrome by whole genome sequencing
Objective: The aim of this study was to use whole genome sequencing (WGS) help detect de novo mutations or pathogenic genes of Mayer-Rokitansky-Küster-Hauser syndrome type 1(MRKH syndrome type 1). Study design: This was a case-parent trios study. Nine unrelated probands, with MRKH syndrome type 1 a...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
| Published: |
Elsevier,
2019-10-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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