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Prenatal Diagnosis of Skeletal Dysplasia and Review of the Literature
INTRODUCTION: Obstetric ultrasonography is routinely used to screen for fetal anomalies. Thanatophoric dysplasia (TD) is one of the common though rare lethal skeletal dysplasia, detected during routine ultrasound scan. TD is caused by a mutation in FGFR3 gene. Characteristic features include shorten...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8057870/ https://www.ncbi.nlm.nih.gov/pubmed/33953997 http://dx.doi.org/10.1155/2021/9940063 |