Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China

BACKGROUND: 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 protein kinase domain containing, cytoplasmic(PKDCC)gene variants. In this study, we describe t...

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Detalles Bibliográficos
Autores principales: Yan, Lulu, Cao, Juan, Zhang, Yuxin, Liu, Yingwen, Zou, Jinghui, Lou, Biying, Zhuang, Danyan, Li, Haibo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10433562/
https://www.ncbi.nlm.nih.gov/pubmed/37592254
http://dx.doi.org/10.1186/s12920-023-01631-7

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