Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome

BACKGROUND: Ellis‐van Creveld syndrome (EVC), a very rare genetic skeletal dysplasia, is clinically characterized by a tetrad consisting of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. The aim of this study was to identify the genetic defect for EVC in a five‐generatio...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Huang, Xiangjun, Guo, Yi, Xu, Hongbo, Yang, Zhijian, Deng, Xiong, Deng, Hao, Yuan, Lamei
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732296/
https://ncbi.nlm.nih.gov/pubmed/31338997
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.885
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky