Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report
Abstract Background Achondroplasia is a congenital skeletal system malformation caused by missense variant of FGFR3 gene with an incidence of 1 per 20,000-30,000 newborns, which is an autosomal dominant inheritance disease. Despite similar imaging features, the homozygous achondroplasia is absolutel...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
BMC,
2023-04-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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