Article

Severe phenotype of a heterozygous with variant on FGFR3 in the second trimester: a case report

2023-01-03

Abstract excerpt

<h4>Background: </h4> Achondroplasia is a congenital skeletal system malformation caused by missense mutation 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 absolutely lethal due to thoracic stenosis, whereas heterozygous achondroplasia does not lead to fetal death. Case present...

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Literature Corpus work: 4b2fb6c9-ed15-5010-a257-e15a765849a6
DOI: 10.21203/rs.3.rs-2370494/v1

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