Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report
Abstract Background Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia. Case presentation A G1 at 21w + 3d came to our institution for the second-trimester ultras...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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BMC,
2021-06-01T00:00:00Z.
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |