Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations

Presented are two patients with autosomal dominant omodysplasia and mutations in the FZD2 gene. The mutations identified have been recently reported, suggesting the possibility of recurrent mutations. The phenotypes of these patients overlap with what has been previously reported, though intellectua...

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Detaylı Bibliyografya
Yayımlandı:Clin Case Rep
Asıl Yazarlar: Warren, Hannah E., Louie, Raymond J., Friez, Michael J., Frías, Jaime L., Leroy, Jules G., Spranger, Jürgen W., Skinner, Steven A., Champaigne, Neena L.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2018
Konular:
Case Reports
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6230601/
https://ncbi.nlm.nih.gov/pubmed/30455931
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1818
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