hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia

We report the first case of nonimmune hydrops fetalis (NIHF) associated with a recessive, in-frame deletion of V205 in the G protein–coupled receptor, Calcitonin Receptor-Like Receptor (hCALCRL). Homozygosity results in fetal demise from hydrops fetalis, while heterozygosity in females is associated...

詳細記述

保存先:
書誌詳細
出版年:J Exp Med
主要な著者: Mackie, Duncan I., Al Mutairi, Fuad, Davis, Reema B., Kechele, Daniel O., Nielsen, Natalie R., Snyder, Joshua C., Caron, Marc G., Kliman, Harvey J., Berg, Jonathan S., Simms, John, Poyner, David R., Caron, Kathleen M.
フォーマット: Artigo
言語:Inglês
出版事項: Rockefeller University Press 2018
主題:
Research Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6122977/
https://ncbi.nlm.nih.gov/pubmed/30115739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20180528
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料