Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester.
Author:
Publisher
Radiological Society of North America (RSNA)
Subject
Radiology Nuclear Medicine and imaging
Link
http://pubs.rsna.org/doi/pdf/10.1148/radiology.196.2.7617874
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1. Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report;BMC Medical Genomics;2023-04-19
2. Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study;Frontiers in Genetics;2023-02-27
3. Severe phenotype of a heterozygous with variant on FGFR3 in the second trimester: a case report;2023-01-03
4. A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing;Frontiers in Genetics;2022-04-05
5. ACHONDROPLASIA;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30
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