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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Clin Case Rep
Egile Nagusiak: Warren, Hannah E., Louie, Raymond J., Friez, Michael J., Frías, Jaime L., Leroy, Jules G., Spranger, Jürgen W., Skinner, Steven A., Champaigne, Neena L.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2018
Gaiak:
Case Reports
Sarrera elektronikoa: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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