Article

Prenatal diagnosis identifies compound heterozygous variants in PKDCC that causes Rhizomelic Limb Shortening with Dysmorphic Features in a Chinese fetus

2023-06-27

Abstract excerpt

<h4>Background: </h4> Rhizomelic limb shortening with dysmorphic features (RLSDF) has already been a disorder of the rare autosomal recessive skeletal dysplasia, just having a few reported cases. RLSDF is caused by PKDCC gene variants. In this article, the clinical features and potential RLSDF molecular etiology in a Chinese fetus are depicted. <h4>Methods: </h4>: Genomic DNA (gDNA) extracted from the fetal muscl...

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Literature Corpus work: 9855e681-4067-5bcd-9575-253b5e903e89
DOI: 10.21203/rs.3.rs-2844322/v1

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