A homozygous EVC mutation in a prenatal fetus with Ellis–van Creveld syndrome

BACKGROUND: Ellis–van Creveld (EvC) syndrome, caused by variants in EVC, is a rare genetic skeletal dysplasia. Its clinical phenotype is highly diverse. EvC syndrome is rarely reported in prenatal stages because its presentation overlaps with other diseases. METHODS: A Chinese pedigree diagnosed wit...

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Detalles Bibliográficos
Autores principales: Wang, Jie, Wang, Xiaohua, Jia, Yueqi, Li, Xiangnan, Liu, Guohui, Sa, Rula, Yu, Haiquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422067/
https://www.ncbi.nlm.nih.gov/pubmed/37157924
http://dx.doi.org/10.1002/mgg3.2183

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422067/
https://www.ncbi.nlm.nih.gov/pubmed/37157924
http://dx.doi.org/10.1002/mgg3.2183

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