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...

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Detaylı Bibliyografya
Yayımlandı:J Exp Med
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Rockefeller University Press 2018
Konular:
Research Articles
Online Erişim: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
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